Abstract
Chronic hypokalemia is known to induce renal cyst formation in some diseases including primary aldosteronism, distal renal tubular acidosis, Liddle disease and apparent mineralocorticoid excess syndrome. Although chronic hypokalemia is the main clinical feature of Bartter syndrome, renal cyst formation in this disease has never been reported. We describe a patient with classic Bartter syndrome who exhibited renal cysts and nephrocalcinosis. Direct sequencing analysis of the chloride channel CLC-Kb gene identified a heterozygous nonsense mutation (W610X) in exon 16 indicating a diagnosis of Bartter syndrome type III. Although the precise mechanism underlying the development of renal cysts in our patient remains unclear, chronic hypokalemia and nephrocalcinosis may contribute to cyst development.
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References
Hebert SC (2003) Bartter syndrome. Curr Opin Nephrol Hypertens 12:527–532
Rodríguez-Soriano J (1998) Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol 12:315–327
Torres VE, Young WF Jr, Offord KP, Hattery RR (1990) Association of hypokalemia, aldosteronism, and renal cysts. N Engl J Med 322:345–351
Alpern RJ, Toto RD (1990) Hypokalemic nephropathy—a clue to cystogenesis? N Engl J Med 322:398–399
Igarashi T, Shibuya K, Kamoshita S, Higashihara E, Kawato H, Hagishima K, Kosugi T (1991) Renal cyst formation as a complication of primary distal renal tubular acidosis. Nephron 59:75–79
Stewart PM, Edwards CRW (1990) Hypokalemia, aldosteronism and renal cysts. N Engl J Med 323:129–130
Moudgil A, Rodich G, Jordan SC, Kamil ES (2000) Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome. Pediatr Nephrol 15:60–62
Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RP (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter’s syndrome type III. Nat Genet 17:171–178
Konrad M, Vollmer M, Lemmink HH, van den Heuvel LPWJ, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschênes G, Antignac C, Guay-Woodford L, Knoers NVAM, Seyberth HW, Feldmann D, Hildebrandt F (2000) Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol 11:1449–1459
Igarashi T, Kosugi T (1994) The incidence of renal cyst formation in patients with primary distal renal tubular acidosis. Nephron 66:474
Walsh-Reitz MM, Toback FG (1983) Kidney epithelial cell growth is stimulated by lowering extracellular potassium concentration. Am J Physiol 244:C429–C32
Schwasrtz MM (1998) Hypokalemic nephropathy. In: Jennette JC, Olson JL, Schwartz MM, Silva FG (eds) Heptinstall’s pathology of the kidney, 5th edn. Lippincott-Raven, Philadelphia, pp 662–665
Torres VE, Mujwid DK, Wilson DM, Holley KH (1994) Renal cystic disease and ammoniagenesis in Han:SPRD rats. J Am Soc Nephrol 5:1193–1200
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Watanabe, T., Tajima, T. Renal cysts and nephrocalcinosis in a patient with Bartter syndrome type III. Pediatr Nephrol 20, 676–678 (2005). https://doi.org/10.1007/s00467-004-1732-5
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DOI: https://doi.org/10.1007/s00467-004-1732-5