Literature DB >> 19469585

Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.

Alan P Kenny1, Nancy A Crimmins, Deborah J G Mackay, Robert J Hopkin, Kevin E Bove, Mike A Leonis.   

Abstract

We report for the first time a patient with both transient neonatal diabetes mellitus (TNDM) and idiopathic neonatal cholestasis, with both features resolving over a similar time course. Cholestasis was due to paucity of interlobular bile ducts (PILBD). Genetic analysis was consistent with a uniparental disomy of chromosome 6. Paucity of interlobular bile ducts is common in Alagille syndrome but also occurs by unknown mechanisms in a wide spectrum of other diseases. We propose a shared explanation for this patient's TNDM and PILBD mediated by the noted chromosomal abnormality. We suggest that hepatobiliary function be evaluated in patients with TNDM to determine the prevalence and course of cholestasis of the disease.

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Year:  2009        PMID: 19469585      PMCID: PMC2916925          DOI: 10.2350/09-03-0628-CR.1

Source DB:  PubMed          Journal:  Pediatr Dev Pathol        ISSN: 1093-5266


  14 in total

1.  Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.

Authors:  J Mitchell; Z Punthakee; B Lo; C Bernard; K Chong; C Newman; L Cartier; V Desilets; E Cutz; I L Hansen; P Riley; C Polychronakos
Journal:  Diabetologia       Date:  2004-12-08       Impact factor: 10.122

Review 2.  Transient neonatal diabetes, a disorder of imprinting.

Authors:  I K Temple; J P H Shield
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

3.  The changing pattern of diagnosis of infantile cholestasis.

Authors:  M O Stormon; S F Dorney; K R Kamath; E V O'Loughlin; K J Gaskin
Journal:  J Paediatr Child Health       Date:  2001-02       Impact factor: 1.954

4.  Distinct mesodermal signals, including BMPs from the septum transversum mesenchyme, are required in combination for hepatogenesis from the endoderm.

Authors:  J M Rossi; N R Dunn; B L Hogan; K S Zaret
Journal:  Genes Dev       Date:  2001-08-01       Impact factor: 11.361

5.  Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM.

Authors:  Dan Ma; Julian P H Shield; Wendy Dean; Isabelle Leclerc; Claude Knauf; R éMy Burcelin R; Guy A Rutter; Gavin Kelsey
Journal:  J Clin Invest       Date:  2004-08       Impact factor: 14.808

Review 6.  Neonatal diabetes.

Authors:  J P H Shield
Journal:  Horm Res       Date:  2007-12-10

7.  Caroli's disease: 6 case studies.

Authors:  Adriana Maria Alves de Tommaso; Daniela Salles Moreira Santos; G Hessel
Journal:  Acta Gastroenterol Latinoam       Date:  2003

Review 8.  Long-term course of neonatal diabetes.

Authors:  K E von Mühlendahl; H Herkenhoff
Journal:  N Engl J Med       Date:  1995-09-14       Impact factor: 91.245

9.  Intrahepatic bile duct dilatation and cholestasis in autosomal recessive polycystic kidney disease. Demonstration with hepatobiliary scintigraphy.

Authors:  K Waters; R Howman-Giles; M Rossleigh; A Lam; R Uren; J Knight
Journal:  Clin Nucl Med       Date:  1995-10       Impact factor: 7.794

10.  A bipotential precursor population for pancreas and liver within the embryonic endoderm.

Authors:  G Deutsch; J Jung; M Zheng; J Lóra; K S Zaret
Journal:  Development       Date:  2001-03       Impact factor: 6.868

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  4 in total

1.  Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

Authors:  Jennifer M Kalish; Laura K Conlin; Tricia R Bhatti; Holly A Dubbs; Mary Catherine Harris; Kosuke Izumi; Sogol Mostoufi-Moab; Surabhi Mulchandani; Sulagna Saitta; Lisa J States; Daniel T Swarr; Alisha B Wilkens; Elaine H Zackai; Kristin Zelley; Marisa S Bartolomei; Kim E Nichols; Andrew A Palladino; Nancy B Spinner; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2013-06-26       Impact factor: 2.802

Review 2.  Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.

Authors:  Carolina Prando; Stéphanie Boisson-Dupuis; Audrey V Grant; Xiao-Fei Kong; Jacinta Bustamante; Jacqueline Feinberg; Ariane Chapgier; Yoann Rose; Lucile Jannière; Elena Rizzardi; Qiuping Zhang; Catherine M Shanahan; Louis Viollet; Stanislas Lyonnet; Laurent Abel; Ezia Maria Ruga; Jean-Laurent Casanova
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

3.  Novel mutations in NOTCH2 gene in infants with neonatal cholestasis.

Authors:  Eliana Shaul; Debora Kogan-Liberman; Stephanie Schuckalo; Dominique Jan; Michelle Ewart; Trang Nguyen; Mercedes Martinez; Nadia Ovchinsky
Journal:  Pediatr Rep       Date:  2019-09-30

4.  Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.

Authors:  Siren Berland; Cecilie F Rustad; Mariann H L Bentsen; Embjørg J Wollen; Gitta Turowski; Stefan Johansson; Gunnar Houge; Bjørn I Haukanes
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-12-09
  4 in total

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