Hardikar syndrome: long term outcome of a rare genetic disorder.
Hardikar syndrome is a rare disorder of unknown etiology. Features of the syndrome are manifold with a predominance of liver and renal involvement. The syndrome is clearly distinct from other previously described syndromes such as Alagille syndrome, congenital hepatic fibrosis, Caroli disease, and Kabuki make-up syndrome. To date, only four cases of Hardikar syndrome have been published worldwide. We report here on the long term outcome of these patients.
Nydegger
Andreas
A
Department of Gastroenterology and Clinical Nutrition, Royal Children's Hospital, Parkville, Victoria, Australia.
Van Dyck
Maria
M
Fisher
Robert A
RA
Jaeken
Jaak
J
Hardikar
Winita
W
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D000328:Adult; D002648:Child; D002971:Cleft Lip / Q000235:genetics / Q000473:pathology / Q000601:surgery; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D005767:Gastrointestinal Diseases / Q000235:genetics / Q000473:pathology / Q000601:surgery; D006801:Humans; D007668:Kidney / Q000473:pathology / Q000601:surgery; D007674:Kidney Diseases / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008099:Liver / Q000473:pathology / Q000601:surgery; D008107:Liver Diseases / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D011788:Quality of Life; D035583:Rare Diseases / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D013577:Syndrome; D013997:Time Factors; D016896:Treatment Outcome