A patient with cystinosis presenting transient features of Bartter syndrome (original) (raw)
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Cystinosis Presenting with Findings of Bartter Syndrome
Journal of Clinical Research …, 2011
A five-year-old boy was referred to our pediatric clinic for evaluation of failure to thrive, headache, intermittent high fever, restlessness, polyuria, and polydipsia. His weight and height measurements were under the 3rd percentile. Clinical findings consisted of frontal bossing, carious teeth, O-bain deformity of the lower extremities, and moderate dehydration. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome and a treatment regimen for Bartter syndrome was started. At follow-up, the polyuria and hyponatremia were found to persist. A reassessment of the patient revealed findings consistent with proximal renal tubular acidosis such as metabolic acidosis with a high urinary pH, proteinuria, aminoaciduria with phosphaturia and hypercalciuria. Based on the presence of parental consanguinity as well as polyuria, proteinuria, low tubular reabsorption of phosphorus, generalized aminoaciduria, light yellow skin and hair color, the probable diagnosis of cystinosis was established and was confirmed by slit-lamp examination of the cornea showing cystine crystal deposition. Our case is a good example demonstrating that development of metabolic alkalosis does not exclude cystinosis and that all findings of the patient should be thoroughly evaluated.Conflict of interest:None declared.
Cystinosis Presenting with Findings of Bartter Syndrome - Case Report
journal of Clinical Research in Pediatric Endocrinology, 2011
Fanconi syndrome, vitamin D-resistant rickets, metabolic acidosis, growth failure, and photophobia. The clinical state progresses to end-stage renal failure (ESRD) by the end of the first decade of life if left untreated (6,7). This report describes a child who presented with growth retardation and was initially diagnosed as Bartter syndrome, but subsequently as cystinosis.
Nephro-urology monthly, 2019
Introduction: Bartter syndrome (BS) is a rare metabolic disorder causing defect in sodium and chloride absorption in the thick ascending limb of Henle's loop and increased urinary loss of sodium chloride (Na), chloride (Cl), and prostaglandins. Case Presentation: We present the case of a 1-year-old girl with BS presenting with vomiting, poor feeding, and agitation. Physical examination revealed muscle weakness, developmental delay, and failure to thrive. Laboratory investigations revealed hypokalemia, metabolic alkalosis, hyponatremia, and hypokalemia. Urinary investigations revealed raised urinary chloride, sodium, potassium, and calcium levels. Renal ultrasound revealed a renal calculus in the lower calyx of the right kidney with hydronephrosis. Conclusions: The basic defect in BS is the loss of one of the transporters involved in sodium reabsorption in the thick ascending limb on the Henle's loop or apical K channel. BS is characterized by severe hypokalemia, metabolic alkalosis, hyponatremia, hypochloremia, and hyperaldosteronism. In BS, increased urinary loss of sodium, potassium, and chloride is observed.
A RARE PRESENTATION OF CYSTINOSIS
ABSTRACT - Cystinosis is a systemic disease caused by defect in metabolism of Cystine. It typically presents as Fanconi syndrome with metabolic acidosis, polyuria, failure to thrive, glucosuria, phophaturia and aminoaciduria. Our patient did not display metabolic acidosis at presentation and had features suggesting Bartter’s syndrome. KEYWORDS - Cystinosis, Metabolic Acidosis, Bartter’s Syndrome
Asian Journal of Pediatric Research
Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle. It characterized by urinary loss of sodium, potassium, and chloride; hypokalemic metabolic alkalosis; normal blood pressure, high plasma levels of renin and aldosterone. There is phenotypical and genetic variability of Bartter syndrome since were identified five genes responsible for five different forms of Bartter syndrome. The objective of this work is to report a clinical case to study the pathophysiological, clinical, biological and therapeutic features of this syndrome. Materials and Methods: We reported a case of 04-month-old male infant admitted for acute dehydration secondary to polyuro-polydipsia syndrome and vomiting. In clinical presentation the patient had a dysmorphic syndrome with triangular face, protruding ears and flattened nasal root. Laboratory tests revealed hypokalemia, hyponatremia, metabolic alkalosis and hypercalciuria....
A new mutation in two siblings with cystinosis presenting with Bartter syndrome
Pediatric Nephrology, 2005
Nephropathic cystinosis is a severe autosomal recessive inherited metabolic disease characterized by accumulation of free cystine in lysosomes. Cystinosis can lead to renal failure and multiorgan impairment. Only five cases of cystinosis with associated Bartter syndrome are reported in the literature, and no genetic evaluation has been reported. We describe two siblings with nephropathic cystinosis presenting with features of Bartter syndrome and their genetic pattern.
Ten Year Retrospective Review of Bartter Syndrome at Sheikh Hospital 2008-2018
Clinical and Experimental Investigations, 2020
Objective: Bartter syndrome is a type of autosomal-recessive genetic abnormality with a low prevalence. In this abnormality, due to the mutations in the cotransporters and channeling proteins that are responsible for the transfer of sodium, chloride and potassium electrolytes in the thick ascending loop of Henle, the body throws out a large amount of these electrolytes through the urine. Early birth (prematurity), polyhydramnios, alkalosis and hypokalemia are the most important side effects of Bartter syndrome. Accordingly, quick detection of this can improve the treatment. Methods and Materials: The purpose of the current study is to investigate the symptoms of patients referred to Sheikh Hospital (Mashhad, Iran) over the past ten years due to Bartter's syndrome. Accordingly, by referring to patients' files, information about them is extracted from the historical documents and, statistically analyzed. Patients are also requested to complete a questionnaire, if necessary, th...
A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome
2015
Bartter syndrome is an autosomal recessive renal tubulopathy that presents with hypokalemic, hypochloremic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninemia and hyperaldosteronemia but normotension. A full term male neonate was referred at 20-day of age with features of sepsis and respiratory distress. He was evaluated and managed as case of septicemia with all supportive paraphernalia including mechanical ventilation. Investigations revealed electrolytes imbalance and metabolic alkalosis suggestive of Neonatal Bartter Syndrome (NBS). Raised aldosterone and renin levels confirmed the diagnosis. Electrolyte imbalance was corrected with fluids and indomethacin, treated successfully, discharged and parents counseled. He was thriving well at 9 months of age. Another 2 months old male baby presented with recurrent episodes of lethargy with dehydration and failure to gain weight. Investigations confirmed the diag...
Bartter Syndrome in a Child With Solitary Functioning Kidney
Turkish Journal of Pediatric Disease, 2022
Bartter Syndrome (BS) is a hereditary condition characterized by polyuria, renal salt wasting, and hypokalemic metabolic alkalosis with high serum renin and aldosterone levels. Patients with BS usually have symptoms in the first two years of life, but they might also be diagnosed at school age or later. Associations between congenital renal and urinary system anomalies and BS are extremely rare. Here we present a case of a 4-year-old girl having a solitary functioning kidney (SFK) due to right renal agenesis, who eventually diagnosed as BS in the light of clinical and laboratory findings. The patient applied to the pediatric nephrology department with the complaint of polyuria. Laboratory evaluation revealed hyponatremia, hypochloremia, hypokalemia with metabolic alkalosis, and high renin and aldosterone levels. Urine sodium, chloride, potassium excretions were increased. Sweat test was normal. CLCNKB mutation with the diagnosis of classic BS was negative. We assume that our patient might have another type of BS with a milder mutation. Urinary anomalies accompanying BS are very rarely reported and up to our knowledge the togetherness of renal agenesis and BS has not been defined in the literature yet.