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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References
Shaer AJ. Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. Am J Med Sci. 2001;322(6):316–32.
Rodriguez-Soriano J. Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol. 1998;12:315–27.
Proesmans W. Threading through the mizmaze of Bartter syndrome. Pediatr Nephrol. 2006;21:896–902.
Seyberth HW. An improved terminology and classification of Bartter-like syndromes. Nat Clin Pract Nephrol. 2008;4(10):560–7.
Peters M, Jeck N, Reinalter S, Leonhardt A, Tönshoff B, Klaus GG, et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med. 2002;112(3):183–90.
Yamazaki H, Nozu K, Narita I, Nagat M, Nozu Y, Fu XJ, et al. Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis. Pediatr Nephrol. 2009;24:415–8.
Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001;29:310–4.
Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter’s syndrome type III. Nat Genet. 1997;17:171–8.
Kleta R, Bockenhauer D. Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol. 2006;104:73–80.
Bettinelli A, Borsa N, Bellantuono R, Syrèn ML, Calabrese R, Edefonti A, et al. Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome. Am J Kidney Dis. 2007;49(1):91–8.
Bettinelli A, Rusconi R, Ciarmatori S, Righini V, Zammarchi E, Donati MA, et al. Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome? Pediatr Res. 1999;46(2):232–8.
Boer LA, Zoppi G. Bartter’s syndrome with impairment of growth hormone secretion. Lancet. 1992;340(8823):860.
Ruvalcaba RH, Martinez FE. Case report: familial growth hormone deficiency associated with Bartter’s syndrome. Am J Med Sci. 1992;303(6):411–4.
Flybjerg A, Droup I, Everts ME, Orskov H. Evidence that potassium deficiency induces growth retardation through reduced circulating levels of growth hormone and insulin-like growth factor I. Metabolism. 1991;140:769–75.
Parks JS, Brown MR. Consequences of mutations in pituitary transcription factor genes. In: Pescovitz O, Eugster EA, editors. Pediatric endocrinology. Philadelphia: Lippincott Williams &Wilkins; 2004. p. 80–9.
Hanevold C, Mian A, Dalton R. C1q nephropathy in association with Gitelman syndrome: a case report. Pediatr Nephrol. 2006;21:1904–8.
Su IH, Frank R, Gauthier BG, Valderrama E, Simon DB, Lifton RP, et al. Bartter syndrome and focal segmental glomerulosclerosis: a possible link between two diseases. Pediatr Nephrol. 2000;14(10–11):970–2.
Blethen SL, VanWyk JJ, Lorentz WB, Jennette JC. Reversal of Bartter’s syndrome by renal transplantation in a child with focal, segmental glomerular sclerosis. Am J Med Sci. 1985;289:31–6.
Bulucu F, Vural A, Yenicesu M, Caglar K. Association of Gitelman’s syndrome and focal glomerulosclerosis. Nephron. 1998;79:244.
Devuyst O, Konrad M, Jeunemaitre X, Zennaro MC. Tubular disorders of electrolyte regulation. In: Avner ED, Harmon WE, Niaudet P, Yoshikawa N, editors. Pediatric nephrology. Philadelphia: Lippincott; 2009. p. 777–929.
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Akil, I., Ozen, S., Kandiloglu, A.R. et al. A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis. Clin Exp Nephrol 14, 278–282 (2010). https://doi.org/10.1007/s10157-009-0262-7
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DOI: https://doi.org/10.1007/s10157-009-0262-7