Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report

Wolcott‐Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired renal function, and exocrine pancreas insufficiency, focusing on clinical ma...

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Autores principales: Lundgren, Markus, De Franco, Elisa, Arnell, Henrik, Fischler, Björn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552956/
https://www.ncbi.nlm.nih.gov/pubmed/31183082
http://dx.doi.org/10.1002/ccr3.2168
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author Lundgren, Markus
De Franco, Elisa
Arnell, Henrik
Fischler, Björn
author_facet Lundgren, Markus
De Franco, Elisa
Arnell, Henrik
Fischler, Björn
author_sort Lundgren, Markus
collection PubMed
description Wolcott‐Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired renal function, and exocrine pancreas insufficiency, focusing on clinical management. For its optimization, thorough care of multiple organ systems is needed.
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spelling pubmed-65529562019-06-10 Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report Lundgren, Markus De Franco, Elisa Arnell, Henrik Fischler, Björn Clin Case Rep Case Reports Wolcott‐Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired renal function, and exocrine pancreas insufficiency, focusing on clinical management. For its optimization, thorough care of multiple organ systems is needed. John Wiley and Sons Inc. 2019-05-01 /pmc/articles/PMC6552956/ /pubmed/31183082 http://dx.doi.org/10.1002/ccr3.2168 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Lundgren, Markus
De Franco, Elisa
Arnell, Henrik
Fischler, Björn
Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report
title Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report
title_full Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report
title_fullStr Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report
title_full_unstemmed Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report
title_short Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report
title_sort practical management in wolcott‐rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552956/
https://www.ncbi.nlm.nih.gov/pubmed/31183082
http://dx.doi.org/10.1002/ccr3.2168
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