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[Endocrinologic and metabolic complications of Alagille syndrome].
- Source :
-
Medizinische Klinik (Munich, Germany : 1983) [Med Klin (Munich)] 1997 Sep 15; Vol. 92 (9), pp. 528-33. - Publication Year :
- 1997
-
Abstract
- Background: Patients with gastrointestinal and hepatobiliary disorders, either congenital or acquired early in childhood, are at high risk for various endocrine and metabolic abnormalities.<br />Case Report: A 27-year-old woman with Alagille's syndrome presented with progressive jaundice and gait disturbances following surgery and ingestion of oral contraceptives. On physical examination, short stature, facial dysmorphism and neuromuscular symptoms such as polyneuropathy and spinocerebellar ataxia were noted. Serum concentrations of total bilirubin (54 mg/dl) and alkaline phosphatase were markedly increased, whereas serum levels of haptoglobin, zinc, vitamin D and E were decreased. Although prehepatic or intrahepatic etiologies of jaundice were more likely in this patient, posthepatic etiologies were ruled out by abdominal ultrasound and endoscopic retrograde cholangio-pancreaticography. Based on a working diagnosis of acute drug-induced cholestasis, treatment with high doses of lipid-soluble vitamins and ursodeoxycholic acid was initiated. In response to therapy, her abnormal laboratory results normalized and her neurologic symptoms markedly improved.<br />Conclusion: This clinicopathological conference of a patient with Alagille's syndrome illustrates the clinical presentation and therapy of metabolic and endocrine complications in chronic cholestasis.
- Subjects :
- Adult
Alagille Syndrome diagnosis
Cholestasis, Intrahepatic chemically induced
Cholestasis, Intrahepatic diagnosis
Contraceptives, Oral, Hormonal administration & dosage
Contraceptives, Oral, Hormonal adverse effects
Desogestrel administration & dosage
Desogestrel adverse effects
Dwarfism, Pituitary diagnosis
Ethinyl Estradiol administration & dosage
Ethinyl Estradiol adverse effects
Female
Humans
Rickets diagnosis
Spinocerebellar Degenerations diagnosis
Spinocerebellar Degenerations etiology
Vitamin D Deficiency diagnosis
Alagille Syndrome complications
Dwarfism, Pituitary etiology
Rickets etiology
Vitamin D Deficiency etiology
Subjects
Details
- Language :
- German
- ISSN :
- 0723-5003
- Volume :
- 92
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Medizinische Klinik (Munich, Germany : 1983)
- Publication Type :
- Academic Journal
- Accession number :
- 9411201
- Full Text :
- https://doi.org/10.1007/BF03044928