Bartter syndrome in a neonate: early treatment with indomethacin (original) (raw)
Related papers
Pediatric Nephrology, 1996
Neonatal Bartter syndrome differs from the classical Bartter syndrome in the occurrence of antenatal presentation with polyhydramnios. Nephrocalcinosis and severe growth retardation are common sequelae. Indomethacin has been reported to improve linear growth, but its use in the early newborn period has been infrequently described. In this paper we report normal growth and development and the absence of nephrocalcinosis in an infant now aged 19 months with neonatal Bartter syndrome treated from day 3 of life with indomethacin. With early diagnosis and treatment with indomethacin plus adequate water, calories, and sodium, normal growth can be achieved and nephrocalcinosis may be prevented in children with neonatal Bartter syndrome.
Fetal urine biochemistry in antenatal Bartter syndrome: a case report
Clinical Case Reports, 2016
Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.
Indian Journal of Pharmacy Practice, 2015
Bartter Syndrome is an inherited renal tubular disorder with hypokalaemia, hypochloremic and metabolic alkalosis. The syndrome was diagnosed by elevated serum renin levels, which is seen in our case, improved with potassium supplements and Indomethacin. In some patients Indomethacin therapy failed to resolve or prevent nephrocalcinosis. We are reporting a case of neonatal bartter syndrome responded well to Indomethacin and appropriate electrolyte therapy which gradually improved the general condition of the child. Unless there is a high degree of suspicion, patients may go undiagnosed or may be incorrectly managed for protein-energy malnutrition. Early diagnosis helps in improving the outcome by Angiotensin converting enzyme inhibitors (ACE) and NSAID's.
Journal of Pediatric Genetics, 2020
Bartter's disease, an inherited renal tubular disorder is due to a defect in ion transport across the ascending limb of the loop of Henle leading to failure of the ability of kidneys to concentrate urine and hence polyuria. We present three fetuses of mothers with severe polyhydramnios with normal maternal blood sugar profile, routine Toxoplasma, Rubella, Cytomegalovirus, Herpes (TORCH) serology. The ultrasound showed no structural anomaly in the fetus, but consistent overdistended bladder with severe polyhydramnios was observed without any evidence of obstructive uropathy. The biochemical test on amniotic fluid was suggestive of Bartter's disease in case 1 and borderline in case 2, and next-generation sequencing confirmed a mutation of KCNJ1 associated with Bartter's disease Type II in case 1 and a mutation in SLC21A1 in case 2. Amniotic fluid biochemistry was inconclusive in case 3. A consistent full bladder with severe polyhydramnios with onset around 24 to 25 weeks w...
Bartter syndrome: An infrequent tubulopathy of prenatal onset
2019
INTRODUCTION Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the second one is a later on set form during the first years of life (classic Bartter). In the antenatal form, it manifests with fetal polyuria, polyhydramnios of early and severe onset, premature delivery, and intrauterine growth restriction. In the postnatal stage, it presents recurrent episodes of dehydration and electrolyte im balance that can compromise the survival of the patient. OBJECTIVE To report a clinical case of neo natal BS and a review of the literature. CLINICAL CASE Premature newborn of 35 weeks of gestation with history of severe polyhydramnios diagnosed at 27 weeks of gestation, without apparent cause. From birth, the patient presented polyuria and hypokalemic metabolic alkalosis making a diagnosis of Neonatal Bartter Syndrome in the first week of life. Laboratory tests confirmed urinary electr...
Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report
BMC Pediatrics
Background Bartter syndrome subtypes are a group of rare renal tubular diseases characterized by impaired salt reabsorption in the tubule, specifically the thick ascending limb of Henle’s loop. Clinically, they are characterized by the association of hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. Bartter syndrome type II is caused by mutations in the renal outer medullary potassium channel (ROMK) gene (KCNJ1), can present in the newborn period and typically requires lifelong therapy. Case presentation We describe a case of a prematurely born female infant presenting with antenatal polyhydramnios, and postnatal dehydration and hyponatremia. After 7 weeks of sodium supplementation, the patient demonstrated complete resolution of her hyponatremia and developed only transient metabolic alkalosis at 2 months of age but continues to be polyuric and exhibits h...
Two neonates with Bartter syndrome
JPMA. The Journal of the Pakistan Medical Association, 2018
Bartter syndrome is an autosomal recessive disorder caused by gene mutations that involve hypokalaemia, hypochloraemia and metabolic alkalosis along with raised serum renin, hyperaldosteronism and normal blood pressure. We report two cases of neonatal Bartter syndrome. Case 1 was a product of non-consanguineous marriage and mother had unexplained polyhydramnios in pregnancy while case 2 was a product of consanguineous marriage. Both cases were diagnosed based on hypokalaemia, hypochloraemia and metabolic alkalosis along with elevated serum renin and aldosterone levels. Case 1 positively responded to indomethacin while case 2 had Protein C and S deficiency and sepsis as coexisting diseases and thus could not be given indomethacin and expired. Regular antenatal visits can help in diagnosis of the syndrome particularly if unexplained poly hydramniosis investigated .
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...
Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone
Prenatal Diagnosis, 2015
Objective Bartter syndrome is a severe inherited tubulopathy characterized by postnatal salt wasting, severe polyuria, dehydration, failure to thrive and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following the onset of severe polyhydramnios in the second trimester. We studied amniotic fluid aldosterone concentration in Bartter syndrome and in controls. Methods Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of prenatally suspected and postnatally confirmed Bartter syndrome (22 with identified mutations): and 72 gestational age matched controls presenting with polyhydramnios and 72 without polyhydramnios. Amniotic fluid aldosterone was compared between the three groups. Results The median amniotic fluid aldosterone concentration in the Bartter syndrome group (90 pg/mL) was not different from that in the controls with polyhydramnios (90 pg/mL, P = 0.33) or without polyhydramnios (87 pg/mL, P = 0.41). Conclusion Amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome.