Renal abnormalities in a family with Alagille syndrome.
Alagille syndrome is largely unknown to the general internist because the diagnosis is usually made by a paediatrician. Nevertheless, it is important to be aware of this syndrome because it sometimes manifests later in life with a great variability in clinical presentation and important consequences for the individual patient. We therefore discuss this syndrome using a patient with the usual characteristics of this syndrome.
Yucel
H
H
Department of Internal Medicine, Catharina Hospital, Eindhoven, the Netherlands. hanifi.yucel@cze.nl
Hoorntje
S J
SJ
Bravenboer
B
B
D000328:Adult; D016738:Alagille Syndrome / Q000175:diagnosis*; D001012:Aorta, Abdominal / Q000473:pathology; D002779:Cholestasis; D005260:Female; D030342:Genetic Diseases, Inborn; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D016030:Kidney Transplantation; D010375:Pedigree; D011666:Pulmonary Valve Stenosis; D012077:Renal Artery / Q000473:pathology; D051437:Renal Insufficiency / Q000209:etiology* / Q000601:surgery