Alagille syndrome: experience of a tertiary care center in North India.
Alagille syndrome (AGS) is an autosomal dominant disorder of chronic cholestasis characterized by paucity of interlobular bile ducts. The condition has been described only as isolated case reports in India. We describe clinical profile and outcome of nine subjects (six infants and three older children) with AGS. Cholestasis and characteristic facies were present in all, followed by congenital heart disease, vertebral anomalies, and posterior embryotoxon in seven, five, and four cases, respectively. Pruritus was the commonest symptom which was refractory to medical treatment in one third of cases. Two cases developed decompensated liver disease on follow up. High index of suspicion for this multisystemic condition is essential for correct diagnosis and management.
Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226 014, India.
Anshu
A
Srivastava
Deepak
D
Goel
Rishi
R
Bolia
Ujjal
U
Poddar
Surender Kumar
SK
Yachha
D016738:Alagille Syndrome / Q000175:diagnosis / Q000473:pathology / Q000628:therapy; D002136:Calcium, Dietary / Q000008:administration & dosage; D002648:Child; D002675:Child, Preschool; D002756:Cholagogues and Choleretics / Q000008:administration & dosage; D002779:Cholestasis; D002792:Cholestyramine Resin / Q000008:administration & dosage; D002149:Energy Intake; D005260:Female; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D011379:Prognosis; D011537:Pruritus; D064167:Recommended Dietary Allowances; D012293:Rifampin / Q000008:administration & dosage; D062606:Tertiary Care Centers; D014280:Triglycerides / Q000008:administration & dosage; D014580:Ursodeoxycholic Acid / Q000008:administration & dosage; D014815:Vitamins / Q000008:administration & dosage
D002136:Calcium, Dietary; D002756:Cholagogues and Choleretics; D014280:Triglycerides; D014815:Vitamins; D002792:Cholestyramine Resin; D014580:Ursodeoxycholic Acid; D012293:Rifampin