Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family

Clinical Nephrology

Volumn 75, Issue SUPPL. 1, 2011, Pages

  Park, C W ^a   Lim, J H ^a   Youn, D Y ^a   Chung, S ^a   Lim, M H ^a   Kim, Y K ^a   Chang, Y S ^a   Lee, J H ^a  

^a The Catholic University of Korea   (South Korea)

Author keywords

Bartter syndrome Type IV; Barttin; End stage renal disease

Indexed keywords

BARTTIN; CHLORIDE; GENE PRODUCT; POTASSIUM; SODIUM; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BARTTER SYNDROME; BASEMENT MEMBRANE; BODY SIZE; BSND GENE; CASE REPORT; CELL HYPERPLASIA; CYTOPLASM; DISEASE SEVERITY; EXON; FAMILIAL DISEASE; GENE; GENE MUTATION; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYDRAMNIOS; HYPERALDOSTERONISM; HYPOKALEMIA; KIDNEY DYSFUNCTION; KIDNEY FAILURE; KIDNEY FIBROSIS; KIDNEY PARENCHYMA; KIDNEY TUBULE CELL; MALE; METABOLIC ALKALOSIS; MISSENSE MUTATION; PHENOTYPE; POLYURIA; POTASSIUM EXCRETION; PREMATURITY; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SODIUM EXCRETION;

ADULT; BARTTER SYNDROME; BIOPSY; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; HYPERPLASIA; KIDNEY; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 79951966268     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.2379/CN106509     Document Type: Article

References (18)

1. Kleta R, Bockenhauer D. Bartter syndrome and other salt-losing tubulopathies. Nephron Physiol. 2006; 104: 73-80.
2. Birkenhager R, Otto E, Schurmann MJ et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001; 29: 310-314. (Pubitemid 33096457)
3. + secretion. Nature. 2001; 414: 558-561.
4. Waldegger S, Jeck N, Barth P et al. Barttin increases surface expression and changes current properties of ClC-K channels. Pflugers Arch. 2002; 444: 411-418.
5. Scholl U, Hebeisen S, Janssen AG, Müller-Newen G, Alekov A, Fehlke C. Barttin modulates trafficking and function of ClC-K channels. Proc Natl Acad Sci USA. 2006; 103: 11411-11416. (Pubitemid 44156531)
6. Jeck N, Reinalter SC, Henne T et al. Hypokalemic salt-losing tubulopathywith chronic renal failure and sensorineural deafness. Pediatrics. 2001; 108: 1-9.
7. Shalev H, Ohali M, Kachko L, Landau D. The neonatal variants of Bartter syndrome and deafness: Preservation of renal function. Pediatrics. 2003; 112: 628-633. (Pubitemid 37082117)
8. Krämer BK, Bergler T, Stoelcker B, Waldegger S. Mechanisms of disease: the kidney-specific chloride channels ClCKA and CICKB, the barttin subunit, and their clinical relevance. Nat Clin Pract Nephrol. 2008; 4: 38-46. (Pubitemid 350308225)
9. Janssen AG, Scholl U, Domeyer C, Nothmann D, Leinenweber A, Fahlke C. Disease-causing dysfunctions of barttin in Bartter syndrome Type IV. J Am Soc Nephrol. 2009; 20: 145-153.
10. Kitanaka S, Sato U, Muruyama K, Igarashi T. A compound heterozygous mutation in the BSND gene detected in Bartter syndome Type IV. Pediatr Nephrol. 2006; 21: 190-193. (Pubitemid 43115869)
11. Miyamura N, Matsumoto K, Taguchi Tet al. Atypical barter syndrome with sensorineural deafness with G47R mutation of the β-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. J Clin Endocrinol Metab. 2003; 88: 781-786. (Pubitemid 36207822)
12. Garcia-Nito V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martin F. Mutation G47R in the RSND gene causes Bartter syndrome with deafness in two Spanish families. Pediatr Nephrol. 2006; 21: 643-648.
13. Riemenschneider T, Bohle A. Morphologic aspects of low-potassium and low-sodium nephropathy. Clin Nephrol. 1983; 19: 271-406.
14. Sato K, Ogata M. Apatient with chronic renal failure due to Batter's syndrome. Nippon Jinzo Gakkai Shi. 1995; 37: 404-409.
15. Maekawa K, Fujimoto T, Shiiki H et al. A case of Bartter's syndrome with chronic renal failure due to chronic interstitial nephritis. Nippon Jinzo Gakkai Shi. 1998; 40: 309-314. (Pubitemid 28298229)
16. Singh D, Raman B, Ramakrishna T, Rao CM. Mixed oligomer formation between human alphaA-crystallin and its cataract-causing G98R mutant: structural, stability and functional differences. J Mol Biol. 2007; 373: 1293-1304. (Pubitemid 47539489)
17. Moreland NJ, Charlier C, Dingley AJ, Baker EN, Lott JS. Making sense of a missense mutation: characterization of MutT2, a Nudix hydrolase from Mycobacterium tuberculosis, and the G58R mutant encoded in W-Beijing strains of M. tuberculosis. Biochemistry. 2009; 48: 699-708.
18. Abbasi AH, Ramadan R, Hoffman A, Abassi Z. Kidney-ear axis. Isr Med Assoc J. 2007; 9: 814-819.