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Published in: Clinical and Experimental Nephrology 3/2010

01-06-2010 | Case Report

A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis

Authors: Ipek Akil, Serkan Ozen, Ali Riza Kandiloglu, Betul Ersoy

Published in: Clinical and Experimental Nephrology | Issue 3/2010

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Abstract

Bartter syndrome is a rare autosomal recessive, salt-losing disorder characterized by hypokalemic hypochloremic metabolic alkalosis. A 10-year-old boy had severe growth retardation (height standard deviation score −8.15). He had a thin, triangular face, prominent ears and forehead, and big eyes. Megacystis, bilateral hydroureteronephrosis, and residual urine were detected in ultrasonography, but there was no vesicoureteral reflux. Lumbosacral magnetic resonance (MR) showed posterior disc bulging at L4–5. Serum sodium and chloride levels were normal, but mild hypokalemia was overlooked initially. During follow-up, hypokalemic hypochloremic metabolic alkalosis developed, with high urinary chloride and potassium excretion (52 and 43 mEq/L, respectively). The patient, with renal salt loss, was thought to have classic Bartter syndrome due to absence of nephrocalcinosis, presence of persistent hypercalciuria and sensorineural deafness, and presence of relatively mild clinical and laboratory findings, except polyuria initially. The child was treated with indomethacin, spironolactone, and oral potassium in addition to growth hormone (GH). During treatment, he had considerable increase in weight and height compared with the period of GH therapy only. We present this case because, although growth retardation is a major feature of Bartter syndrome, associated GH deficiency is rarely reported in the literature. Diagnosis of Bartter syndrome was made later, as our patient was followed for megacystis and megaureter secondary to the neurogenic bladder and GH deficiency initially; and proteinuria associated with focal segmental glomerulosclerosis responded to treatment for Bartter syndrome.
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Metadata
Title
A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis
Authors
Ipek Akil
Serkan Ozen
Ali Riza Kandiloglu
Betul Ersoy
Publication date
01-06-2010
Publisher
Springer Japan
Published in
Clinical and Experimental Nephrology / Issue 3/2010
Print ISSN: 1342-1751
Electronic ISSN: 1437-7799
DOI
https://doi.org/10.1007/s10157-009-0262-7

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