Two neonates with Bartter syndrome (original) (raw)
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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...
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 ' s Syndrome in Pregnancy : A Case Report and Review
2019
Bartter's syndrome is a rare autosomal recessive disorder characterized by hypokalemia, hyperaldosteronism, sodium wasting, normal blood pressure, hypochloremicalkalosis, and hyperplasia of the juxtaglomerular apparatus. We present a 28-year-old Indian nulliparous patient who was referred to our hospital at 16 weeks' gestation. Patient was known case of Hyperthyroidism diagnosed 18 months ago and was being treated with Propylthiouracil. She presented with Vomiting followed by ascending quadriparesis. She required increasing potassium supplementation. She developed hypomagnesemia which necessitated magnesium therapy. Patient suffered intrauterine death of her fetus. Bartter's syndrome, although extremely rare in pregnancy, requires prompt recognition and careful management, as it may have significant maternal and neonatal implications.
Bartter syndrome in a neonate: early treatment with indomethacin
Pediatric Nephrology, 2000
The neonatal form of Bartter syndrome is characterized by intrauterine onset of polyuria leading to severe polyhydramnios. We report a patient with the early onset of the syndrome and a similar history in a previous sibling who died in early neonatal life. The patient is a female product of 33 weeks of gestation complicated by severe polyhydramnios. Her birth weight was 2,100 g. Polyuria led to severe dehydration on the 3rd day of life. Laboratory studies showed hypokalemia, hyponatremia, and elevated plasma levels of renin and aldosterone. Hypercalciuria was associated with echographic evidence of nephrocalcinosis. Indomethacin therapy resulted in a significant reduction in urine volume and correction of biochemical abnormalities. Growth and development are satisfactory after 4 years of indomethacin therapy, but nephrocalcinosis remains unchanged.
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.
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.
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...
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.
A case of Bartter syndrome type I with atypical presentations
Korean journal of pediatrics, 2010
Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset age. BS type I is caused by loss-of-function mutations in the SLC12A1 gene and usually manifests as antenatal BS. This report concerns a male patient with compound heterozygous missense mutations on SLC12A1 (p.C436Y and p.L560P) and atypical clinical and laboratory features. The patient had low urinary sodium and chloride levels without definite metabolic alkalosis until the age of 32 months, which led to confusion between BS and nephrogenic diabetes insipidus (NDI). In addition, the clinical onset of the patient was far beyond the neonatal period. Genetic study eventually...