UNLABELLED: A child with the tentative diagnosis of Alagille syndrome is reported. Additional renal abnormalities are unilateral kidney agenesis and a kidney with subcortical cysts with decreased function. At the age of 5 years, insulin-dependent diabetes mellitus developed, with the pancreas being atrophic and negative pancreatic islet cell antibodies. CONCLUSION: This observation extends the picture of Alagille syndrome and suggests an overlap with renal-hepatic-pancreatic dysplasia (Ivemark syndrome).
UNLABELLED: A child with the tentative diagnosis of Alagille syndrome is reported. Additional renal abnormalities are unilateral kidney agenesis and a kidney with subcortical cysts with decreased function. At the age of 5 years, insulin-dependent diabetes mellitus developed, with the pancreas being atrophic and negative pancreatic islet cell antibodies. CONCLUSION: This observation extends the picture of Alagille syndrome and suggests an overlap with renal-hepatic-pancreatic dysplasia (Ivemark syndrome).
Authors: F Anad; J Burn; D Matthews; I Cross; B C Davison; R Mueller; M Sands; D M Lillington; E Eastham Journal: J Med Genet Date: 1990-12 Impact factor: 6.318
Authors: K Obinata; N Nakatsu; T Watanabe; S Niijima; O Arisaka; H Sasaki; H Nittono; K Yabuta; T Miyano Journal: Eur J Pediatr Date: 1985-09 Impact factor: 3.183
Authors: Binita M Kamath; Gisele Podkameni; Anne L Hutchinson; Laura D Leonard; Jennifer Gerfen; Ian D Krantz; David A Piccoli; Nancy B Spinner; Kathleen M Loomes; Kevin Meyers Journal: Am J Med Genet A Date: 2011-11-21 Impact factor: 2.802