Sangeetha Geminiganesan | Sri Ramachandra University (original) (raw)

Papers by Sangeetha Geminiganesan

Journal of Indian Association of Pediatric Surgeons, 2024

Journal of Indian Association of Pediatric Surgeons, Dec 31, 2022

Indian journal of nephrology/Indian Journal of Nephrology, Jun 17, 2024

Journal of Nephrology & Therapeutics, 2014

Febrile urinary tract infection is one of the commonest infections in the childhood. Unrecognized... more Febrile urinary tract infection is one of the commonest infections in the childhood. Unrecognized and untreated childhood UTI can lead to scarring of the growing kidneys with subsequent hypertension and renal failure. This study has been done at a tertiary care medical centre to study the clinico-biological and imaging correlation in children with first episode of febrile UTI. Renal function tests, ultrasonogram, DMSA and MCU were done according to ISPN and institutional protocol. Imaging was done on follow up as per need. Majority of the children were found to be in 1 to 5 years age (68%) group and overall there was female preponderance (n=80; 53%). Dysuria was the commonest presentation in febrile UTI and E. coli, the commonest organism isolated. USG was found abnormal in 57.6% of children and DMSA done in acute phase picked up pyelonephritis in 81.5%. MCU revealed VUR in 39% of the study population. The study underlines the importance and efficacy of various investigations apart from the clinical presentation in diagnosing UTI and defining the associated risk factors.

Cureus, Feb 3, 2022

To study the various pathological patterns of pediatric lupus nephritis (LN) by renal biopsies an... more To study the various pathological patterns of pediatric lupus nephritis (LN) by renal biopsies and to correlate the histopathological data with the clinical and biochemical outcomes. Methods This is a retrospective study in children between 1 month and 18 years of age with renal biopsy-proven lupus nephritis, conducted between January 2015 and December 2019. Various pathological and clinical parameters were compared between the groups with lupus nephritis activity and those without activity. Results Of 38 biopsy-proven lupus nephritis cases, 30 (78.9%) were in the adolescent age group, and the female gender was predominantly affected (n=30; 78.9%). Class IV proliferative lupus nephritis (n=17, 44.7%) was the most common biopsy finding, and the activity score for endocapillary hypercellularity, neutrophil infiltration, fibrinoid necrosis, hyaline deposits, and interstitial inflammation was significantly high in classes III and IV. Overall, attaining remission was less, and the risk of progression of chronic kidney disease (CKD) was higher in class IV (n=3; 7.8%). Mortality was reported in 1 out of 38 (2.6%) children. Conclusion Light microscopy and immunofluorescence studies play an important role in defining the extent of renal damage in the form of activity and chronicity indices, which are the key factors in the decision-making of lupus nephritis treatment. The prognostic relevance of the histological scoring has been evaluated, and it is evident that the activity index and chronicity index go a long way in therapeutic intervention.

Research Square (Research Square), Nov 3, 2022

Background Nephrotic syndrome is one of the common cause among the kidney disease in children wor... more Background Nephrotic syndrome is one of the common cause among the kidney disease in children worldwide .It is characterised by the edema proteinuria, hypoalbuminemia and hypocholestromia. Recently many studies have emerged with the association of microRNAs playing an potential roles in many pathophysiological functions. MicroRNAs(miRNAs) and RNA binding proteins (RBPs) are found to be two most important needed transcriptional regulators of gene expression as well as for the aberrant expression that tend to contribute to the development of the disease. It can reduce translation neither by translation repression through or MicroRNA cleavage. In this present study we have checked for the expression pattern of the targeted microRNAs miR-17-5P,miR-155p ,miR-424-5p ,miR-1 and 215-5p in the Children among Steroid Sensitive Nephrotic syndrome(SSNS) Steroid Resistance Nephrotic Syndrome (SRNS)along with the healthy individuals. Total RNA was isolated from the urine samples among the three groups(SSNS = 100,SRNS = 100 and healthy individuals100).The expression pattern for theses microRNAs was carried out using RT-PCR .Bioinformatics tools such as miRWalk, miR-Tar link were used in predicting targets for the microRNAs an online data bases and g pro ler software is used which was also helpful in evaluating the targets based on the biological functions, Molecular functions and the pathways related to the selected microRNAs, along with that ROC analysis was also performed which was widely helpful in selecting the microRNAs that could be used as a potential biomarker as well as a therapeutic target. Among the ve microRNAs miR-1,miR-215, miR-17-5P, ,miR-155-5p & miR-424-5p.Two microRNAs miR-424-5p& miR-155p is found to be up regulated in the SRNS group.

PubMed, Apr 1, 2022

Hemophagocytic lymphohistiocytosis is a rare and potentially fatal disorder caused by immune dysr... more Hemophagocytic lymphohistiocytosis is a rare and potentially fatal disorder caused by immune dysregulation. It can occur as a primary genetic disease or secondarily due to various causes including infections, malignancies or autoimmune diseases. In this case report, we present two cases of Hemophagocytic lymphohistiocytosis which were secondary to typhoid and dengue fever. While primary disease occurs predominantly in infants, secondary hemophagocytic lymphohistiocytosis can occur in any age group. Both primary and secondary hemophagocytic lymphohistiocytosis are characterised by fever, hepatosplenomegaly, pancytopenia and multiorgan dysfunction. But unusual persistence of fever and other organ involvement should need further workup for hemophagocytic lymphohistiocytosis. Secondary hemophagocytic lymphohistiocytosis may resolve on treating the underlying disorder. But severe cases need treatment with immunosuppressive/immunomodulation therapy to prevent morbidity. Early clinical suspicion, prompt diagnosis and treatment of hemophagocytic lymphohistiocytosis are essential to prevent deleterious effects to health.

Pediatric Review: International Journal of Pediatric Research, Feb 28, 2018

Contrast induced nephropathy is a reversible form of acute kidney injury occurs following adminis... more Contrast induced nephropathy is a reversible form of acute kidney injury occurs following administration of radiocontrast agents. It is associated with serious adverse short and long-term outcomes. The risk is negligible in children with normal renal function but increased in children with underlying kidney disease, dehydration and on nephrotoxic drugs. Contrast induced nephropathy is defined as increase in serum creatinine by >0.5 mg/dL or 25% increase from baseline within 48 to 72 hours of contrast administration. It is one of the commonest cause of hospital acquired acute kidney injury. We present a case of 10 years old boy with normal kidney function who developed acute kidney injury following intravenous contrast administration.

Molecular Biology Reports, May 13, 2022

Case Reports, Feb 1, 2021

Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is on... more Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is one of the Garrod’s tetrad of ‘inborn errors of metabolism’ proposed to have Mendelian recessive inheritance. The disorder is characterised by deposition of homogentisic acid leading to ochronosis and ochronotic osteoarthropathy; however, blackish discoloration of urine is the only childhood manifestation. Other manifestations present only after third decade. A 13-year-old boy presented to paediatric nephrology clinic with blackish discolouration of urine since infancy. Examination revealed bluish black discolouration of bilateral sclera and ear cartilage; however, he had no symptoms of ochronotic osteoarthropathy. Genetic test pointed towards alkaptonuria. Currently, he is on regular follow-up and is being treated with vitamin C to delay the progression of the disease. Early diagnosis with appropriate intervention delays the onset of complications and preserves the quality of life of the patient.

International Journal Of Community Medicine And Public Health

Background: Immunization is one of the most indispensable community-based health interventions wi... more Background: Immunization is one of the most indispensable community-based health interventions with unquestionable ability to improve a nation’s health status. In spite of evidences about the effectiveness of vaccines, millions of children around the world are lagging behind exposing them and their community to a risk of epidemics. Despite efforts taken to improve vaccination coverage, India has only succeeded in achieving 65% coverage in childhood immunization. We aim to determine parental knowledge, attitudes and practices regarding childhood immunization. Methods: It is a questionnaire-based observational study involving 95 parents with children aged 12 to 24 months, conducted in a tertiary care hospital in Tamil Nadu. Results: Ninety children have been completely immunized according to age. Nearly 60% children did not receive vaccinations according to prescribed schedule. More than half parents believed that vaccines are efficient in preventing diseases, which was statistically ...

EJIFCC, Oct 1, 2022

Background: An association between nephrotic syndrome and extrarenal neoplasia was described for ... more Background: An association between nephrotic syndrome and extrarenal neoplasia was described for the first time in 1922. The reported incidence of nephrotic syndrome in Hodgkin lymphoma is less than 1%. Clinical description: We present a 13 year old boy who was admitted with complaints of abdominal pain, vomiting and loose stools for 2 months. He had a history of significant weight loss of 5kg in a couple of months.On examination, he had bilateral pedal oedema and right cervical lymphadenopathy. Cervical lymph node biopsy revealed nodular sclerosis type of Hodgkin lymphoma. He also had hypoalbuminemia, massive proteinuria and hypercholesterolemia.Secondary nephrotic syndrome due to Hodgkin's lymphoma was made as a clinical diagnosis. Management and outcome: He had been started on chemotherapy (with Prednisolone, Vincristine, Doxorubicin, Etoposide) for stage 3B Hodgkin lymphoma. He tolerated the chemotherapy well. Though he had symptomatic edema, managed conservatively as the urine output was adequate. On follow up, he attained spontaneous remission of nephrotic syndrome. Conclusion: Overt proteinuria might be the manifestation of paraneoplastic syndrome in children with Hodgkin lymphoma and with the management of the primary disease, proteinuria resolves spontaneously.

Background Nephrotic syndrome is one of the common cause among the kidney disease in children wor... more Background Nephrotic syndrome is one of the common cause among the kidney disease in children worldwide .It is characterised by the edema proteinuria, hypoalbuminemia and hypocholestromia. Recently many studies have emerged with the association of microRNAs playing an potential roles in many pathophysiological functions. MicroRNAs(miRNAs ) and RNA binding proteins (RBPs) are found to be two most important needed transcriptional regulators of gene expression as well as for the aberrant expression that tend to contribute to the development of the disease. It can reduce translation neither by translation repression through or MicroRNA cleavage. In this present study we have checked for the expression pattern of the targeted microRNAs miR-17-5P,miR-155p ,miR- 424 -5p ,miR-1 and 215-5p in the Children among Steroid Sensitive Nephrotic syndrome(SSNS) Steroid Resistance Nephrotic Syndrome (SRNS)along with the healthy individuals. Total RNA was isolated from the urine samples among the thre...

EJIFCC, Apr 1, 2022

Hemophagocytic lymphohistiocytosis is a rare and potentially fatal disorder caused by immune dysr... more Hemophagocytic lymphohistiocytosis is a rare and potentially fatal disorder caused by immune dysregulation. It can occur as a primary genetic disease or secondarily due to various causes including infections, malignancies or autoimmune diseases. In this case report, we present two cases of Hemophagocytic lymphohistiocytosis which were secondary to typhoid and dengue fever. While primary disease occurs predominantly in infants, secondary hemophagocytic lymphohistiocytosis can occur in any age group. Both primary and secondary hemophagocytic lymphohistiocytosis are characterised by fever, hepatosplenomegaly, pancytopenia and multiorgan dysfunction. But unusual persistence of fever and other organ involvement should need further workup for hemophagocytic lymphohistiocytosis. Secondary hemophagocytic lymphohistiocytosis may resolve on treating the underlying disorder. But severe cases need treatment with immunosuppressive/immunomodulation therapy to prevent morbidity. Early clinical suspicion, prompt diagnosis and treatment of hemophagocytic lymphohistiocytosis are essential to prevent deleterious effects to health.

Molecular Biology Reports

A two years old girlwith newly diagnosed acute lymphoblastic leukemia on induction chemotherapy d... more A two years old girlwith newly diagnosed acute lymphoblastic leukemia on induction chemotherapy developed abdominal colic and passage of powdery material in the urine. Ultrasound abdomen revealed stone in the right kidney. She was treated with adequate hydration and alkali therapy and improved symptomatically. She has completed intensive phase of chemotherapy and had no recurrence of symptoms. Repeat ultrasound after two months of therapy showed no stones. Though renal stone disease is rare in childhood leukemia, it should be ruled out, as abdominal colic is generally attributed to the common side effects of drugs used in chemotherapy.

Background Recently, urinary exosomal miRNAs are gaining increasing attention as their expression... more Background Recently, urinary exosomal miRNAs are gaining increasing attention as their expression profiles are often associated with specific diseases and they exhibit great potential as noninvasive biomarkers for the diagnosis of various diseases. The present study was aimed to evaluate the expression status of selected miRNAs (miR-1, miR-215-5p, miR-335-5p and let-7a-5p) in urine samples from children with NS [steroid sensitive (SSNS)] and [steroid resistant (SRNS)] along with healthy control group.Methods MicroRNA isolation was carried out in urine samples collected from SSNS (100 nos), SRNS (100 nos), and healthy controls (50 nos) using MiRNeasy Mini Kit, followed by cDNA conversion for all the four selected miRNAs using Taqman advanced miRNA cDNA synthesis kit and their expression was quantified by Taqman Advanced miRNA assay kits using Real Time PCR Machine and Rotogen-Q in SSNS and SRNS patients and healthy control subjects.ResultsQuantification of all the four miRNAs (miR-1,...

BMJ Case Reports, 2021

Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is on... more Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is one of the Garrod’s tetrad of ‘inborn errors of metabolism’ proposed to have Mendelian recessive inheritance. The disorder is characterised by deposition of homogentisic acid leading to ochronosis and ochronotic osteoarthropathy; however, blackish discoloration of urine is the only childhood manifestation. Other manifestations present only after third decade. A 13-year-old boy presented to paediatric nephrology clinic with blackish discolouration of urine since infancy. Examination revealed bluish black discolouration of bilateral sclera and ear cartilage; however, he had no symptoms of ochronotic osteoarthropathy. Genetic test pointed towards alkaptonuria. Currently, he is on regular follow-up and is being treated with vitamin C to delay the progression of the disease. Early diagnosis with appropriate intervention delays the onset of complications and preserves the quality of life of the ...

BMJ Case Reports, 2021

Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children and is charac... more Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children and is characterised by the presence of proximal muscle weakness, heliotrope dermatitis, Gottron’s papules and occasionally auto antibodies. The disease primarily affects skin and muscles, but can also affect other organs. Renal manifestations though common in autoimmune conditions like lupus are rare in JDM. We describe a child whose presenting complaint was extensive calcinosis cutis. Subtle features of proximal muscle weakness were detected on examination. MRI of thighs and a muscle biopsy confirmed myositis. Nephrocalcinosis was found during routine ultrasound screening. We report the first case of a child presenting with rare association of dermatomyositis, calcinosis cutis and bilateral medullary nephrocalcinosis.

BMJ Case Reports, 2021

Complement-mediated kidney disease has been an evolving area in the field of nephrology. Atypical... more Complement-mediated kidney disease has been an evolving area in the field of nephrology. Atypical haemolytic uraemic syndrome (aHUS) is a rare thrombotic microangiopathy that affects multiple organs, particularly kidneys. The disease is characterised by a triad of haemolytic anaemia, thrombocytopenia and acute kidney injury (AKI). aHUS is most commonly caused by dysregulation of alternative complement pathway. In contrast to shiga toxin-associated haemolytic uraemic syndrome, diarrheal prodrome is usually absent in children with aHUS. We report a 2-year, 9-month-old boy who presented with acute dysentery and AKI. He had an unusual prolonged course of illness with hypocomplementaemia; hence, genetic testing was performed. He had a storming course in the hospital and succumbed to complications of the disease. Genetic study revealed digenic mutation in Complement Factor I and C3. Therefore, it is important to differentiate aHUS from other thrombotic microangiopathies to improve the out...

Journal of Indian Association of Pediatric Surgeons, 2024

Journal of Indian Association of Pediatric Surgeons, Dec 31, 2022

Indian journal of nephrology/Indian Journal of Nephrology, Jun 17, 2024

Journal of Nephrology & Therapeutics, 2014

Febrile urinary tract infection is one of the commonest infections in the childhood. Unrecognized... more Febrile urinary tract infection is one of the commonest infections in the childhood. Unrecognized and untreated childhood UTI can lead to scarring of the growing kidneys with subsequent hypertension and renal failure. This study has been done at a tertiary care medical centre to study the clinico-biological and imaging correlation in children with first episode of febrile UTI. Renal function tests, ultrasonogram, DMSA and MCU were done according to ISPN and institutional protocol. Imaging was done on follow up as per need. Majority of the children were found to be in 1 to 5 years age (68%) group and overall there was female preponderance (n=80; 53%). Dysuria was the commonest presentation in febrile UTI and E. coli, the commonest organism isolated. USG was found abnormal in 57.6% of children and DMSA done in acute phase picked up pyelonephritis in 81.5%. MCU revealed VUR in 39% of the study population. The study underlines the importance and efficacy of various investigations apart from the clinical presentation in diagnosing UTI and defining the associated risk factors.

Cureus, Feb 3, 2022

To study the various pathological patterns of pediatric lupus nephritis (LN) by renal biopsies an... more To study the various pathological patterns of pediatric lupus nephritis (LN) by renal biopsies and to correlate the histopathological data with the clinical and biochemical outcomes. Methods This is a retrospective study in children between 1 month and 18 years of age with renal biopsy-proven lupus nephritis, conducted between January 2015 and December 2019. Various pathological and clinical parameters were compared between the groups with lupus nephritis activity and those without activity. Results Of 38 biopsy-proven lupus nephritis cases, 30 (78.9%) were in the adolescent age group, and the female gender was predominantly affected (n=30; 78.9%). Class IV proliferative lupus nephritis (n=17, 44.7%) was the most common biopsy finding, and the activity score for endocapillary hypercellularity, neutrophil infiltration, fibrinoid necrosis, hyaline deposits, and interstitial inflammation was significantly high in classes III and IV. Overall, attaining remission was less, and the risk of progression of chronic kidney disease (CKD) was higher in class IV (n=3; 7.8%). Mortality was reported in 1 out of 38 (2.6%) children. Conclusion Light microscopy and immunofluorescence studies play an important role in defining the extent of renal damage in the form of activity and chronicity indices, which are the key factors in the decision-making of lupus nephritis treatment. The prognostic relevance of the histological scoring has been evaluated, and it is evident that the activity index and chronicity index go a long way in therapeutic intervention.

Research Square (Research Square), Nov 3, 2022

Background Nephrotic syndrome is one of the common cause among the kidney disease in children wor... more Background Nephrotic syndrome is one of the common cause among the kidney disease in children worldwide .It is characterised by the edema proteinuria, hypoalbuminemia and hypocholestromia. Recently many studies have emerged with the association of microRNAs playing an potential roles in many pathophysiological functions. MicroRNAs(miRNAs) and RNA binding proteins (RBPs) are found to be two most important needed transcriptional regulators of gene expression as well as for the aberrant expression that tend to contribute to the development of the disease. It can reduce translation neither by translation repression through or MicroRNA cleavage. In this present study we have checked for the expression pattern of the targeted microRNAs miR-17-5P,miR-155p ,miR-424-5p ,miR-1 and 215-5p in the Children among Steroid Sensitive Nephrotic syndrome(SSNS) Steroid Resistance Nephrotic Syndrome (SRNS)along with the healthy individuals. Total RNA was isolated from the urine samples among the three groups(SSNS = 100,SRNS = 100 and healthy individuals100).The expression pattern for theses microRNAs was carried out using RT-PCR .Bioinformatics tools such as miRWalk, miR-Tar link were used in predicting targets for the microRNAs an online data bases and g pro ler software is used which was also helpful in evaluating the targets based on the biological functions, Molecular functions and the pathways related to the selected microRNAs, along with that ROC analysis was also performed which was widely helpful in selecting the microRNAs that could be used as a potential biomarker as well as a therapeutic target. Among the ve microRNAs miR-1,miR-215, miR-17-5P, ,miR-155-5p & miR-424-5p.Two microRNAs miR-424-5p& miR-155p is found to be up regulated in the SRNS group.

PubMed, Apr 1, 2022

Hemophagocytic lymphohistiocytosis is a rare and potentially fatal disorder caused by immune dysr... more Hemophagocytic lymphohistiocytosis is a rare and potentially fatal disorder caused by immune dysregulation. It can occur as a primary genetic disease or secondarily due to various causes including infections, malignancies or autoimmune diseases. In this case report, we present two cases of Hemophagocytic lymphohistiocytosis which were secondary to typhoid and dengue fever. While primary disease occurs predominantly in infants, secondary hemophagocytic lymphohistiocytosis can occur in any age group. Both primary and secondary hemophagocytic lymphohistiocytosis are characterised by fever, hepatosplenomegaly, pancytopenia and multiorgan dysfunction. But unusual persistence of fever and other organ involvement should need further workup for hemophagocytic lymphohistiocytosis. Secondary hemophagocytic lymphohistiocytosis may resolve on treating the underlying disorder. But severe cases need treatment with immunosuppressive/immunomodulation therapy to prevent morbidity. Early clinical suspicion, prompt diagnosis and treatment of hemophagocytic lymphohistiocytosis are essential to prevent deleterious effects to health.

Pediatric Review: International Journal of Pediatric Research, Feb 28, 2018

Contrast induced nephropathy is a reversible form of acute kidney injury occurs following adminis... more Contrast induced nephropathy is a reversible form of acute kidney injury occurs following administration of radiocontrast agents. It is associated with serious adverse short and long-term outcomes. The risk is negligible in children with normal renal function but increased in children with underlying kidney disease, dehydration and on nephrotoxic drugs. Contrast induced nephropathy is defined as increase in serum creatinine by >0.5 mg/dL or 25% increase from baseline within 48 to 72 hours of contrast administration. It is one of the commonest cause of hospital acquired acute kidney injury. We present a case of 10 years old boy with normal kidney function who developed acute kidney injury following intravenous contrast administration.

Molecular Biology Reports, May 13, 2022

Case Reports, Feb 1, 2021

Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is on... more Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is one of the Garrod’s tetrad of ‘inborn errors of metabolism’ proposed to have Mendelian recessive inheritance. The disorder is characterised by deposition of homogentisic acid leading to ochronosis and ochronotic osteoarthropathy; however, blackish discoloration of urine is the only childhood manifestation. Other manifestations present only after third decade. A 13-year-old boy presented to paediatric nephrology clinic with blackish discolouration of urine since infancy. Examination revealed bluish black discolouration of bilateral sclera and ear cartilage; however, he had no symptoms of ochronotic osteoarthropathy. Genetic test pointed towards alkaptonuria. Currently, he is on regular follow-up and is being treated with vitamin C to delay the progression of the disease. Early diagnosis with appropriate intervention delays the onset of complications and preserves the quality of life of the patient.

International Journal Of Community Medicine And Public Health

Background: Immunization is one of the most indispensable community-based health interventions wi... more Background: Immunization is one of the most indispensable community-based health interventions with unquestionable ability to improve a nation’s health status. In spite of evidences about the effectiveness of vaccines, millions of children around the world are lagging behind exposing them and their community to a risk of epidemics. Despite efforts taken to improve vaccination coverage, India has only succeeded in achieving 65% coverage in childhood immunization. We aim to determine parental knowledge, attitudes and practices regarding childhood immunization. Methods: It is a questionnaire-based observational study involving 95 parents with children aged 12 to 24 months, conducted in a tertiary care hospital in Tamil Nadu. Results: Ninety children have been completely immunized according to age. Nearly 60% children did not receive vaccinations according to prescribed schedule. More than half parents believed that vaccines are efficient in preventing diseases, which was statistically ...

EJIFCC, Oct 1, 2022

Background: An association between nephrotic syndrome and extrarenal neoplasia was described for ... more Background: An association between nephrotic syndrome and extrarenal neoplasia was described for the first time in 1922. The reported incidence of nephrotic syndrome in Hodgkin lymphoma is less than 1%. Clinical description: We present a 13 year old boy who was admitted with complaints of abdominal pain, vomiting and loose stools for 2 months. He had a history of significant weight loss of 5kg in a couple of months.On examination, he had bilateral pedal oedema and right cervical lymphadenopathy. Cervical lymph node biopsy revealed nodular sclerosis type of Hodgkin lymphoma. He also had hypoalbuminemia, massive proteinuria and hypercholesterolemia.Secondary nephrotic syndrome due to Hodgkin's lymphoma was made as a clinical diagnosis. Management and outcome: He had been started on chemotherapy (with Prednisolone, Vincristine, Doxorubicin, Etoposide) for stage 3B Hodgkin lymphoma. He tolerated the chemotherapy well. Though he had symptomatic edema, managed conservatively as the urine output was adequate. On follow up, he attained spontaneous remission of nephrotic syndrome. Conclusion: Overt proteinuria might be the manifestation of paraneoplastic syndrome in children with Hodgkin lymphoma and with the management of the primary disease, proteinuria resolves spontaneously.

Background Nephrotic syndrome is one of the common cause among the kidney disease in children wor... more Background Nephrotic syndrome is one of the common cause among the kidney disease in children worldwide .It is characterised by the edema proteinuria, hypoalbuminemia and hypocholestromia. Recently many studies have emerged with the association of microRNAs playing an potential roles in many pathophysiological functions. MicroRNAs(miRNAs ) and RNA binding proteins (RBPs) are found to be two most important needed transcriptional regulators of gene expression as well as for the aberrant expression that tend to contribute to the development of the disease. It can reduce translation neither by translation repression through or MicroRNA cleavage. In this present study we have checked for the expression pattern of the targeted microRNAs miR-17-5P,miR-155p ,miR- 424 -5p ,miR-1 and 215-5p in the Children among Steroid Sensitive Nephrotic syndrome(SSNS) Steroid Resistance Nephrotic Syndrome (SRNS)along with the healthy individuals. Total RNA was isolated from the urine samples among the thre...

EJIFCC, Apr 1, 2022

Hemophagocytic lymphohistiocytosis is a rare and potentially fatal disorder caused by immune dysr... more Hemophagocytic lymphohistiocytosis is a rare and potentially fatal disorder caused by immune dysregulation. It can occur as a primary genetic disease or secondarily due to various causes including infections, malignancies or autoimmune diseases. In this case report, we present two cases of Hemophagocytic lymphohistiocytosis which were secondary to typhoid and dengue fever. While primary disease occurs predominantly in infants, secondary hemophagocytic lymphohistiocytosis can occur in any age group. Both primary and secondary hemophagocytic lymphohistiocytosis are characterised by fever, hepatosplenomegaly, pancytopenia and multiorgan dysfunction. But unusual persistence of fever and other organ involvement should need further workup for hemophagocytic lymphohistiocytosis. Secondary hemophagocytic lymphohistiocytosis may resolve on treating the underlying disorder. But severe cases need treatment with immunosuppressive/immunomodulation therapy to prevent morbidity. Early clinical suspicion, prompt diagnosis and treatment of hemophagocytic lymphohistiocytosis are essential to prevent deleterious effects to health.

Molecular Biology Reports

A two years old girlwith newly diagnosed acute lymphoblastic leukemia on induction chemotherapy d... more A two years old girlwith newly diagnosed acute lymphoblastic leukemia on induction chemotherapy developed abdominal colic and passage of powdery material in the urine. Ultrasound abdomen revealed stone in the right kidney. She was treated with adequate hydration and alkali therapy and improved symptomatically. She has completed intensive phase of chemotherapy and had no recurrence of symptoms. Repeat ultrasound after two months of therapy showed no stones. Though renal stone disease is rare in childhood leukemia, it should be ruled out, as abdominal colic is generally attributed to the common side effects of drugs used in chemotherapy.

Background Recently, urinary exosomal miRNAs are gaining increasing attention as their expression... more Background Recently, urinary exosomal miRNAs are gaining increasing attention as their expression profiles are often associated with specific diseases and they exhibit great potential as noninvasive biomarkers for the diagnosis of various diseases. The present study was aimed to evaluate the expression status of selected miRNAs (miR-1, miR-215-5p, miR-335-5p and let-7a-5p) in urine samples from children with NS [steroid sensitive (SSNS)] and [steroid resistant (SRNS)] along with healthy control group.Methods MicroRNA isolation was carried out in urine samples collected from SSNS (100 nos), SRNS (100 nos), and healthy controls (50 nos) using MiRNeasy Mini Kit, followed by cDNA conversion for all the four selected miRNAs using Taqman advanced miRNA cDNA synthesis kit and their expression was quantified by Taqman Advanced miRNA assay kits using Real Time PCR Machine and Rotogen-Q in SSNS and SRNS patients and healthy control subjects.ResultsQuantification of all the four miRNAs (miR-1,...

BMJ Case Reports, 2021

Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is on... more Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is one of the Garrod’s tetrad of ‘inborn errors of metabolism’ proposed to have Mendelian recessive inheritance. The disorder is characterised by deposition of homogentisic acid leading to ochronosis and ochronotic osteoarthropathy; however, blackish discoloration of urine is the only childhood manifestation. Other manifestations present only after third decade. A 13-year-old boy presented to paediatric nephrology clinic with blackish discolouration of urine since infancy. Examination revealed bluish black discolouration of bilateral sclera and ear cartilage; however, he had no symptoms of ochronotic osteoarthropathy. Genetic test pointed towards alkaptonuria. Currently, he is on regular follow-up and is being treated with vitamin C to delay the progression of the disease. Early diagnosis with appropriate intervention delays the onset of complications and preserves the quality of life of the ...

BMJ Case Reports, 2021

Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children and is charac... more Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children and is characterised by the presence of proximal muscle weakness, heliotrope dermatitis, Gottron’s papules and occasionally auto antibodies. The disease primarily affects skin and muscles, but can also affect other organs. Renal manifestations though common in autoimmune conditions like lupus are rare in JDM. We describe a child whose presenting complaint was extensive calcinosis cutis. Subtle features of proximal muscle weakness were detected on examination. MRI of thighs and a muscle biopsy confirmed myositis. Nephrocalcinosis was found during routine ultrasound screening. We report the first case of a child presenting with rare association of dermatomyositis, calcinosis cutis and bilateral medullary nephrocalcinosis.

BMJ Case Reports, 2021

Complement-mediated kidney disease has been an evolving area in the field of nephrology. Atypical... more Complement-mediated kidney disease has been an evolving area in the field of nephrology. Atypical haemolytic uraemic syndrome (aHUS) is a rare thrombotic microangiopathy that affects multiple organs, particularly kidneys. The disease is characterised by a triad of haemolytic anaemia, thrombocytopenia and acute kidney injury (AKI). aHUS is most commonly caused by dysregulation of alternative complement pathway. In contrast to shiga toxin-associated haemolytic uraemic syndrome, diarrheal prodrome is usually absent in children with aHUS. We report a 2-year, 9-month-old boy who presented with acute dysentery and AKI. He had an unusual prolonged course of illness with hypocomplementaemia; hence, genetic testing was performed. He had a storming course in the hospital and succumbed to complications of the disease. Genetic study revealed digenic mutation in Complement Factor I and C3. Therefore, it is important to differentiate aHUS from other thrombotic microangiopathies to improve the out...