Childhood Bartter’s syndrome: An Indian case series
ABSTRACT This is a retrospective analysis of children diagnosed with Bartter's syndrome (BS) between 2001 and 2009 in our hospital. Seven children (six males) were diagnosed with BS. The mean age at presentation was 6.5 ± 4.9 months. The presenting features were failure to thrive,vomiting, polyuria, and dehydration. All children were normotensive at admission. The children exhibited alkalemia (pH, 7.58 ± 0.03), hypokalemia (serum potassium, 2.62 ± 0.47 mEq/l), hypochloremia (serum chloride, 82.83 ± 16.7 mEq/l), and hyponatremia (serum sodium, 126.85 ± 3.56 mEq/l). Disproportionate urinary wasting of sodium, potassium, and chloride were seen. The diagnosis was confirmed by elevated serum levels of both renin and aldosterone with normotension. Indomethacin or ibuprofen therapy resulted in marked improvement in general condition of these children. In conclusion, a high index of suspicion should be entertained in children with failure to thrive to diagnose BS. Therapy with NSAIDs leads to marked improvement in the general well being.
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ABSTRACT: Tubular disorders form a significant proportion of pediatric kidney diseases and are an important differential diagnosis of failure to thrive (FTT) in children. Data regarding their outcome is scarce from India. We evaluated the clinical profile of these children and studied the outcome in terms of their growth and renal failure. This is a retrospective longitudinal study of all children with renal tubular disorders attending a tertiary care pediatric nephrology center from 2005 to 2010. Growth and renal outcomes were assessed by Z scores and estimated glomerular filtration rate at diagnosis and. The common disorders encountered were distal renal tubular acidosis (d-RTA) (44%), Bartter-like (Bartter's and Gitelman) syndromes (22%) followed by hereditary Fanconi syndrome (cystinosis and idiopathic Fanconi syndrome) (13%) and few cases of nephrogenic diabetes insipidus, hypophosphatemic rickets and idiopathic hypercalciuria. Male: female ratio was 1.22. The median age at diagnosis was 1.5 (range 0.13-11) years. Growth failure was the presenting feature in 86% of children followed by polyuria (60%) and bone deformities (47%). In 60% of children with hereditary Fanconi syndrome, nephropathic cystinosis was diagnosed, all of whom progressed to stage III chronic kidney disease (CKD) within 3.41 ± 1.42 years. With appropriate therapy, catch-up growth was noted in d-RTA and Bartter syndrome. Renal tubular disorders usually present with FTT. d-RTA is the most common etiology followed by Bartter-like syndrome. Renal function is preserved in all these disorders except for nephropathic cystinosis, who ultimately progressed to CKD. With appropriate and inexpensive therapy, these children do grow well.Indian Journal of Nephrology 03/2014; 24(6). DOI:10.4103/0971-4065.133002
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ABSTRACT: Bartter syndrome is a group of inherited, salt-losing tubulopathies presenting as hypokalemic metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. Around 150 cases have been reported in literature till now. Mutations leading to salt losing tubulopathies are not routinely tested in Indian population. The authors have done the genetic analysis for the first time in the Bartter syndrome on two cases from India. First case was antenatal Bartter syndrome presenting with massive polyuria and hyperkalemia. Mutational analysis revealed compound heterozygous mutations in KCNJ1(ROMK) gene [p(Leu220Phe), p(Thr191Pro)]. Second case had a phenotypic presentation of classical Bartter syndrome however, genetic analysis revealed only heterozygous novel mutation in SLC12A gene p(Ala232Thr). Bartter syndrome is a clinical diagnosis and genetic analysis is recommended for prognostication and genetic counseling.The Indian Journal of Pediatrics 04/2014; 81(10). DOI:10.1007/s12098-014-1379-6 · 0.92 Impact Factor
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ABSTRACT: Gitelman's syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypokalemia, hypomagnesaemia, hypocalciuria, hyperreninemia and without hypertension. Gitelman's syndrome is caused by mutations of the SLC12A3 gene, which encodes the Na/Cl co-transporter (NCCT) in the distal convoluted tubule. Majority of cases manifest during adolescence or adulthood and growth retardation is not the common feature. We report a rare presentation of Gitelman's syndrome in a four-year-old boy with growth retardation.Indian Journal of Nephrology 01/2014; 24(1):60-2. DOI:10.4103/0971-4065.125133