Liddle's syndrome: Prospective genetic screening and suppressed aldosterone secretion in an extended kindred

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 4, 1997, Pages 1071-1074

  Findling, James W ^a,c   Raff, Hershel ^a   Hansson, Joni H ^b   Lifton, Richard P ^b,d  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CLEMENT J ZABLOCKI VETERANS AFFAIRS MEDICAL CENTER   (United States)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; CORTISONE; HYDROCORTISONE;

ADOLESCENT; ALDOSTERONE BLOOD LEVEL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; HYPERTENSION; HYPOKALEMIA; LIDDLE SYNDROME; PLASMA RENIN ACTIVITY; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; ALDOSTERONE; BLOOD PRESSURE; FEMALE; FRAMESHIFT MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMANS; HYPERTENSION; HYPOKALEMIA; MALE; MIDDLE AGED; PEDIGREE; PROSPECTIVE STUDIES; SYNDROME;

EID: 0031001023     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.4.1071     Document Type: Article

References (13)

1. 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.
2. Botero-Velez M, Curtis JJ, Warnock DG. 1994 Brief report: Liddle's syndrome revisited. N Engl J Med. 330:178-181.
3. Shimkets RA, Warnock DG, Bositis CM, et al. 1994 Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell. 79:407-414.
4. Hansson JH, Nelson-Williams C, Suzuki H, et al. 1995 Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle's syndrome. Nat Genet. 11:76-82.
5. Hansson JH, Schild L, Lu Y, et al. 1995 A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle's syndrome and identifies a proline-rich segment of the protein critical for regulation of channel activity. Proc Natl Acad Sci USA. 92:11495-11499.
6. Tamura H, Schild L, Enomoto N, et al. 1996 Liddle's disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene. J Clin Invest. 97:1780-1784.
7. Schild L, Canessa CM, Shimkets RA, Gautschi I, Lifton RP, Rossier BC. 1995 A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in Xenopus laevis oocyte expression system. Proc Natl Acad Sci USA. 92:5699-5703.
8. + channel. Cell. 83:969-978.
9. Schild L, Lu Y, Gotchi I, Schneerberger G, Lifton RP, Rossier BC. 1996 Identification of a PY motif in the epithelial sodium channel subunits as a target sequence for mutations causing channel activation found in Liddle's syndrome. EMBO J. 15:2381-2387.
10. Rosner B, Prineas RJ, Loggie JMH, Daniels SR. 1993 Blood pressure nomograms for children and adolescents, by height, sex, and age, in the United States. J Pediatr. 123:871-886.
11. Lifton RP. 1996 Molecular genetics of human blood pressure variation. Science. 272:676-680.
12. + channel deleted in Liddle's syndrome. EMBO J. 15:2371-2380.
13. Sealey JE, Trenkwalder P, Gahnem F, Catanzaro D, Laragh JH. 1995 Plasma renin methodology: inadequate sensitivity and accuracy of direct renin assay for clinical applications compared with the traditional enzymatic plasma renin activity assay. J Hypertension. 13:27-30.