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Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: Atypical Alagille syndrome?

  • Gastroenterology/Hepatology
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Abstract

Abstract

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 (Iyemark syndrome).

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Abbreviations

GFR :

glomerular filtration rate

IDDM :

insulin dependent diabetes mellitus

RHPD :

renal hepatic pancreatic dysplasia

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Authors and Affiliations

  1. Department of Paediatrics, University Hospital Leuven, Leuven, Belgium

    K. Devriendt, L. Dooms, W. Proesmans, F. de Zegher & E. Eggermont

  2. Department of Pathology, University Hospital Leuven, Leuyen, Belgium

    V. Desmet

  3. Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, B-3000, Leuven, Belgium

    K. Devriendt

Authors
  1. K. Devriendt
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  2. L. Dooms
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  3. W. Proesmans
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  4. F. de Zegher
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  5. E. Eggermont
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  6. V. Desmet
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  7. K. Devriendt
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Correspondence to K. Devriendt.

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Devriendt, K., Dooms, L., Proesmans, W. et al. Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: Atypical Alagille syndrome?. Eur J Pediatr 155, 87–90 (1996). https://doi.org/10.1007/BF02075756

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  • DOI: https://doi.org/10.1007/BF02075756

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