Liddle syndrome caused by P616R mutation of the epithelial sodium channel β subunit [1]

Pediatric Nephrology

Volumn 20, Issue 6, 2005, Pages 837-838

  Ciechanowicz, Andrzej ^a   Dolezel, Zdenek ^b   Placha, Grzegorz ^c   Starha, Jiri ^b   Góra, Jarosław ^c   Gaciong, Zbigniew ^c   Brodkiewicz, Andrzej ^a   Adler, Grazyna ^a  

^a POMERANIAN MEDICAL UNIVERSITY   (Poland)

^b UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; ARGININE; GENOMIC DNA; PROLINE; SODIUM CHANNEL;

ADULT; ALDOSTERONE BLOOD LEVEL; AMINO ACID SUBSTITUTION; CASE REPORT; CODON; CZECH REPUBLIC; DNA SEQUENCE; EXON; FEMALE; FOLLOW UP; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERTENSION; HYPOKALEMIA; LETTER; LIDDLE SYNDROME; MALE; MISSENSE MUTATION; PLASMA RENIN ACTIVITY; PRIORITY JOURNAL; SCHOOL CHILD;

ARGININE; CHILD; EPITHELIAL SODIUM CHANNEL; GENES, DOMINANT; HUMANS; HYPERTENSION; MALE; MUTATION; PROLINE; SODIUM CHANNELS;

EID: 18644362838     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-004-1793-5     Document Type: Letter

References (8)

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2. Liddle GW, Bledsoe T, Coppage WS (1963) A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Physicians 76:199-213 1:CAS:528:DyaF2cXktVKltrY%3D
3. Dolezel Z, Kopecna L, Starha J (2000) The rare cause of hypokalaemia. Nephrol Dial Transplant 15:1475-1476 10.1093/ndt/15.9.1475
4. Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP (1995) A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci USA 92:11495-11499 1:CAS:528:DyaK2MXpvVOgurc%3D
5. Uehara Y, Sasaguri M, Kinoshita A, Tsuji E, Kiyose H, Taniguchi H, Noda K, Ideishi M, Inoue J, Tomita K, Arakawa K (1998) Genetic analysis of the epithelial sodium channel in Liddle's syndrome. J Hypertens 16:1131-1135 10.1097/00004872-199816080-00008
6. Yamashita Y, Koga M, Takeda Y, Enomoto N, Uchida S, Hashimoto K, Yamano S, Dohi K, Marumo F, Sasaki S (2001) Two sporadic cases of Liddle's syndrome caused by de novo ENaC mutations. Am J Kidney Dis 37:499-504 1:CAS:528:DC%2BD3MXit1ektL0%3D
7. Gao PJ, Zhang KX, Zhu DL, He X, Han ZY, Zhan YM, Yang LW (2001) Diagnosis of Liddle syndrome by genetic analysis of beta and gamma subunits of epithelial sodium channel - a report of five affected family members. J Hypertens 19:885-889 10.1097/00004872-200105000-00008
8. Schild L, Lu Y, Gautschi I, Schneeberger E, Lifton RP, Rossier BC (1996) Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. EMBO J 15:2381-2387 1:CAS:528:DyaK28XjsVGjur4%3D