Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3

Wolcott-Rallison syndrome is a rare autosomal recessive disease characterized by neonatal diabetes mellitus in combination with osteodysplasia and liver failure. This disease is the most common cause of neonatal diabetes mellitus in consanguineous families. Wolcott-Rallison syndrome is associated wi...

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Autores principales:	Diliara N. Gubaeva, Dmitry N. Laptev, Anatoly N. Tiulpakov, Lidia M. Petrova
Formato:	article
Lenguaje:	EN RU
Publicado:	Endocrinology Research Centre 2018
Materias:	wolcott-rallison syndrome neonatal diabetes mellitus eif2ak3 perk case report Nutritional diseases. Deficiency diseases RC620-627
Acceso en línea:	https://doaj.org/article/1c81293931284278bac630e6e4341f1e
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spelling	oai:doaj.org-article:1c81293931284278bac630e6e4341f1e2021-11-14T09:00:21ZSevere Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK32072-03512072-037810.14341/DM8770https://doaj.org/article/1c81293931284278bac630e6e4341f1e2018-03-01T00:00:00Zhttps://www.dia-endojournals.ru/jour/article/view/8770https://doaj.org/toc/2072-0351https://doaj.org/toc/2072-0378Wolcott-Rallison syndrome is a rare autosomal recessive disease characterized by neonatal diabetes mellitus in combination with osteodysplasia and liver failure. This disease is the most common cause of neonatal diabetes mellitus in consanguineous families. Wolcott-Rallison syndrome is associated with mutations in the EIF2AK3, the gene encoding a transmembrane enzyme PERK (pancreatic endoplasmic reticulum kinase) which inhibits the synthesis of proteins in the event of misfolding in the endoplasmic reticulum. In addition to the core symptoms patients may develop multisystemic clinical manifestation including acute renal and liver failure, short stature, exocrine pancreatic insufficiency, neuro-motor deficit, hypothyroidism, anemia, neutropenia, recurrent hypoglycemia. The disease is characterized by high mortality, more than 50% of patients die from fulminant liver failure. The awareness of Wolcott-Rallison syndrome is extremely low due to the rarity of detection, however in view of the severity of the disease and the unfavorable prognosis patients with this syndrome require timely diagnosis and care of well-organized team of specialists.Diliara N. GubaevaDmitry N. LaptevAnatoly N. TiulpakovLidia M. PetrovaEndocrinology Research Centrearticlewolcott-rallison syndromeneonatal diabetes mellituseif2ak3perkcase reportNutritional diseases. Deficiency diseasesRC620-627ENRUСахарный диабет, Vol 21, Iss 1, Pp 42-47 (2018)
institution	DOAJ
collection	DOAJ
language	EN RU
topic	wolcott-rallison syndrome neonatal diabetes mellitus eif2ak3 perk case report Nutritional diseases. Deficiency diseases RC620-627
spellingShingle	wolcott-rallison syndrome neonatal diabetes mellitus eif2ak3 perk case report Nutritional diseases. Deficiency diseases RC620-627 Diliara N. Gubaeva Dmitry N. Laptev Anatoly N. Tiulpakov Lidia M. Petrova Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3
description	Wolcott-Rallison syndrome is a rare autosomal recessive disease characterized by neonatal diabetes mellitus in combination with osteodysplasia and liver failure. This disease is the most common cause of neonatal diabetes mellitus in consanguineous families. Wolcott-Rallison syndrome is associated with mutations in the EIF2AK3, the gene encoding a transmembrane enzyme PERK (pancreatic endoplasmic reticulum kinase) which inhibits the synthesis of proteins in the event of misfolding in the endoplasmic reticulum. In addition to the core symptoms patients may develop multisystemic clinical manifestation including acute renal and liver failure, short stature, exocrine pancreatic insufficiency, neuro-motor deficit, hypothyroidism, anemia, neutropenia, recurrent hypoglycemia. The disease is characterized by high mortality, more than 50% of patients die from fulminant liver failure. The awareness of Wolcott-Rallison syndrome is extremely low due to the rarity of detection, however in view of the severity of the disease and the unfavorable prognosis patients with this syndrome require timely diagnosis and care of well-organized team of specialists.
format	article
author	Diliara N. Gubaeva Dmitry N. Laptev Anatoly N. Tiulpakov Lidia M. Petrova
author_facet	Diliara N. Gubaeva Dmitry N. Laptev Anatoly N. Tiulpakov Lidia M. Petrova
author_sort	Diliara N. Gubaeva
title	Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3
title_short	Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3
title_full	Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3
title_fullStr	Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3
title_full_unstemmed	Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3
title_sort	severe wolcott-rallison syndrome due to a nonsense mutation in the first exon eif2ak3
publisher	Endocrinology Research Centre
publishDate	2018
url	https://doaj.org/article/1c81293931284278bac630e6e4341f1e
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Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3

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