Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome

Clinical Nephrology

Volumn 69, Issue 6, 2008, Pages 450-453

  Pela, Ivanna ^a   Bigozzi, M ^a   Bianchi, B ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Hypochloremic metabolic alkalosis; Hypokalemia; Pendred syndrome; Thiazides

Indexed keywords

BETAMETHASONE; CHLORIDE; CHLORTALIDONE; POTASSIUM; POTASSIUM CHLORIDE; SODIUM; SPIRONOLACTONE;

ARTICLE; CASE REPORT; CHILD; CHLORIDE BLOOD LEVEL; CLINICAL FEATURE; HEAD INJURY; HUMAN; HYPOCHLOREMIA; HYPOKALEMIA; MENIERE DISEASE; METABOLIC ALKALOSIS; PENDRED SYNDROME; PERCEPTION DEAFNESS; POTASSIUM BLOOD LEVEL; SODIUM BLOOD LEVEL;

EID: 44949248331     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/CNP69450     Document Type: Article

References (16)

1. de Seigneux S, Malte H, Dimke H, Frøkiœr J, Nielsen S, Friesche S. Renal compensation to chronic hypoxic hypercapnia: downregulation of pendrin and adaptation of the proximal tubule. Am J Physiol Ren Physiol. 2007; 292: F1256-F1266.
2. Everett LA, Green ED. A family of mammalian anion transporters and their involvement in human genetic diseases. Hum Mol Genet. 1999; 8: 1883-1891.
3. Everett LA, Morsli H, Wu DK, Green ED. Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci USA. 1999; 96: 9727-9732.
4. 3 loading. Am J Physiol Ren Physiol. 2003; 284: F584-F593.
5. Glaser B. Pendred syndrome. Pediatr Endocrinol Rev. 2003; 1 Suppl 2: 199-204.
6. Minor LB, Schessel DA, Carey JP. MéniPre's disease. Curr Opin Neurol. 2004; 17: 9-16.
7. Munroy A, Plata C, Hebert SC, Gamba G. Characterization of the thiazide-sensitive Na(+) - Cl(-) cotransporter: a new model for ions and diuretics interaction. Am J Physiol Ren Physiol. 2000; 279: 161-169.
8. - exchanger pendrin in the rat kidney is regulated in response to chronic alterations in chloride balance. Am J Physiol Ren Physiol. 2004; 287: 1179-1188.
9. Royaux IE, Wall SM, Karniski LP, Everett LA, Suzuki K, Knepper MA, Green ED. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci USA. 2001; 98: 4221-4226.
10. Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser B. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet. 1996; 12: 424-426.
11. Soleimani M, Xu J. SLC26 chloride/base exchangers in the kidney in health and disease. Semin Nephrol. 2006; 26: 375-385.
12. Vallet M, Picard N, Loffing-Cueni D, Fysekidis M, Bloch-Faure M, Deschenes G, Breton S, Meneton P, Loffing J, Aronson PS, Chambrey R, Eladari D. Pendrin regulation in mouse kidney primarily is chloride-dependent. J Am Soc Nephrol. 2006; 17: 2153-2163.
13. Verlander JW, Kim YH, Shin W, Pham TD, Hassell KA, Beierwaltes WH, Green ED, Everett L, Matthews SW, Wall SM. Dietary Cl(-) restriction upregulates pendrin expression within the apical plasma membrane of Type B intercalated cells. Am J Physiol Ren Physiol. 2006; 291: F833-F839.
14. Wagner CA. The emerging role of pendrin in renal chloride reabsorption. Am J Physiol Ren Physiol. 2007; 292: F912-F913.
15. - conservation. Hypertension. 2004; 44: 982-987.
16. Yoshida A, Hisatome I, Tanigushi S, Sasaki N, Yamamoto Y, Miake J, Fukui H, Shimizu H, Okamura T, Okura T, Igawa O, Shigemasa C, Green ED, Kohn LD, Suzuki K. Mechanism of iodide/chloride exchange by pendrin. Endocrinology. 2004; 145: 4301-4308.