Renal abnormalities in a family with Alagille syndrome

Netherlands Journal of Medicine

Volumn 68, Issue 1, 2010, Pages 38-39

  Yucel, H ^a   Hoorntje, S J ^a   Bravenboer, B ^a  

^a CATHARINA HOSPITAL   (Netherlands)

Author keywords

Alagille syndrome; Dysmorphic feautures; Renal failure

Indexed keywords

CALCIUM CHANNEL BLOCKING AGENT; GAMMA GLUTAMYLTRANSFERASE;

ADULT; ALAGILLE SYNDROME; ARTICLE; BLOOD PRESSURE MEASUREMENT; CASE REPORT; DIGITAL SUBTRACTION ANGIOGRAPHY; FEMALE; FOLLOW UP; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; HUMAN; HYPERTENSION; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; OPHTHALMOLOGY; PHYSICAL EXAMINATION; PULSE RATE; SYSTOLIC HEART MURMUR; ULTRASOUND;

ADULT; ALAGILLE SYNDROME; AORTA, ABDOMINAL; CHOLESTASIS; FEMALE; GENETIC DISEASES, INBORN; HUMANS; KIDNEY; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; PEDIGREE; PULMONARY VALVE STENOSIS; RENAL ARTERY;

EID: 76749096795     PISSN: 03002977     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (4)

1. Schonck M, Hoorntje S, van Hooff J. Renal transplantation in Alagille syndrome. Nephrol Dial Transplant. 1998;13(1):197-9.
2. Jacquet A, Guiochon-Mantel A, Noël LH, et al. Alagille syndrome in adult patients: It is never too late. Am J Kidney Dis. 2007;49(5):705-9.
3. Kamath BM, Spinner NB, Emerick KM, et al. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation. 2004;109(11):1354-8.
4. Warthen DM, Moore EC, Kamath BM et al. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum Mutat. 2006;27(5):436-43.