A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism

Pediatric Nephrology

Volumn 22, Issue 8, 2007, Pages 1219-1223

  Nozu, Kandai ^a   Fu, Xue Jun ^a   Kaito, Hiroshi ^a   Kanda, Kyoko ^a   Yokoyama, Naoki ^a   Krol, Rafal Przybyslaw ^a   Nakajima, Toshihiro ^b   Kajiyama, Mizutaka ^b   Iijima, Kazumoto ^c   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY   (Japan)

^b Shinko Hospital   (Japan)

^c NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Bartter syndrome; Hyperkalemia; Hypokalemia; KCNJ1; Pseudohypoaldosteronism (PHA); ROMK

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL; KCNJ1 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BARTTER SYNDROME; BLOOD; CASE REPORT; CLASSIFICATION; FOLLOW UP; GENETICS; HOMOZYGOTE; HUMAN; HYPERCALCIURIA; HYPERKALEMIA; HYPONATREMIA; LENGTH OF STAY; MALE; METABOLISM; MUTATION; PEDIGREE; PSEUDOHYPOALDOSTERONISM;

ADOLESCENT; BARTTER SYNDROME; FOLLOW-UP STUDIES; HOMOZYGOTE; HUMANS; HYPERCALCIURIA; HYPERKALEMIA; HYPONATREMIA; LENGTH OF STAY; MALE; MUTATION; PEDIGREE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PSEUDOHYPOALDOSTERONISM;

EID: 34548427041     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-007-0468-4     Document Type: Article

References (20)

1. Bartter FC, Pronove P, Gill JR Jr, Maccardle RC (1962) Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 33:811-828
2. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP (1996) Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13(2):183-188
3. Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP (1996) Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 14(2):152-156
4. 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(2):171-178
5. Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29(3):310-314
6. Vargas-Poussou R, Huang C, Hulin P, Houillier P, Jeunemaitre X, Paillard M, Planelles G, Dechaux M, Miller RT, Antignac C (2002) Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 13(9):2259-2266
7. Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, Chikatsu N, Fujita T (2002) Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 360(9334):692-694
8. Jeck N, Derst C, Wischmeyer E, Ott H, Weber S, Rudin C, Seyberth HW, Daut J, Karschin A, Konrad M (2001) Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. Kidney Int 59(5):1803-1811
9. Peters M, Jeck N, Reinalter S, Leonhardt A, Tonshoff B, Klaus GG, Konrad M, Seyberth HW (2002) Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 112(3):183-190
10. Finer G, Shalev H, Birk OS, Galron D, Jeck N, Sinai-Treiman L, Landau D (2003) Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome. J Pediatr 142(3):318-323
11. Landau D (2004) Potassium handling in health and disease: Lessons from inherited tubulopathies. Pediatr Endocrinol Rev 2 (2):203-208
12. Giebisch G (1998) Renal potassium transport: Mechanisms and regulation. Am J Physiol 274(2):F817-F833
13. Satlin LM (1999) Regulation of potassium transport in the maturing kidney. Semin Nephrol 19(2):155-165
14. Satlin LM (2004) Developmental regulation of expression of renal potassium secretory channels. Curr Opin Nephrol Hypertens 13 (4):445-450
15. Woda CB, Miyawaki N, Ramalakshmi S, Ramkumar M, Rojas R, Zavilowitz B, Kleyman TR, Satlin LM (2003) Ontogeny of flowstimulated potassium secretion in rabbit cortical collecting duct: Functional and molecular aspects. Am J Physiol Renal Physiol 285 (4):F629-F639
16. Bailey MA, Cantone A, Yan, Q MacGregor GG, Leng Q, Amorim JB, Wang T, Hebert SC, Giebisch G, Malnic G (2006) Maxi-K channels contribute to urinary potassium excretion in the ROMKdeficient mouse model of Type II Bartter's syndrome and in adaptation to a high-K diet. Kidney Int 70(1):51-59
17. Shuck ME, Bock JH, Benjamin CW, Tsai TD, Lee KS, Slightom JL, Bienkowski MJ (1994) Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel. J Biol Chem 269(39):24261-24270
18. Liou HH, Zhou SS, Huang CL (1999) Regulation of ROMK1 channel by protein kinase A via a phosphatidylinositol 4,5-bisphosphate-dependent mechanism. Proc Natl Acad Sci USA 96(10):5820-5825
19. MacGregor GG, Xu JZ, McNicholas CM, Giebisch G, Hebert SC (1998) Partially active channels produced by PKA site mutation of the cloned renal K+ channel, ROMK2 (kir1.2). Am J Physiol 275(2):F415-F22
20. Schulte U, Hahn H, Konrad M, Jeck N, Derst C, Wild K, Weidemann S, Ruppersberg JP, Fakler B, Ludwig J (1999) pH gating of ROMK (K(ir)1.1) channels: Control by an Arg-Lys-Arg triad disrupted in antenatal Bartter syndrome. Proc Natl Acad Sci USA 96(26):15298-15303