Trial reportHormone research in paediatrics2015
Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.
Trial report in Hormone research in paediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 39 citations in OpenAlex.
- A Novel EIF2AK3 Variant Causing Wolcott-Rallison Syndrome With Early Neonatal Diabetic Ketoacidosis as Initial Presentation: A Case Report.Clinical case reports · 2025Article
- Recurrent Liver Failure Due to Wolcott Rallison Syndrome.Indian journal of pediatrics · 2024Article
- Genetic knock-in of EIF2AK3 variants reveals differences in PERK activity in mouse liver and pancreas under endoplasmic reticulum stress.Scientific reports · 2024Article
- Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia-Wolcott-Rallison's Syndrome.Journal of pediatric genetics · 2024Article
- Kidney biopsy findings in children with diabetes mellitus.Pediatric nephrology (Berlin, Germany) · 2024Review
- Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan.Pediatric diabetes · 2024Article
- Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants-Case Report.Pediatric reports · 2023Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt.Annals of pediatric endocrinology & metabolism · 2022Article
- Wolcott-Rallison syndrome: a case series of three patients.Pediatric endocrinology, diabetes, and metabolism · 2022Article
- Long-term follow-up of a child with Wolcott-Rallison syndrome.BMJ case reports · 2021Article
- Diabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database.Orphanet journal of rare diseases · 2020Article
- A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary.BMC medical genetics · 2020Article
- Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.Hormone research in paediatrics · 2020Article
- The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar.Molecular genetics & genomic medicine · 2019Article
- Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report.Clinical case reports · 2019Article
- EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report.BMC pediatrics · 2019Article
- World's smallest combined en bloc liver-pancreas transplantation.Pediatric transplantation · 2018Article
- Multicystic dysplastic kidney: a new association of Wolcott-Rallison syndrome.Endocrinology, diabetes & metabolism case reports · 2017Article
Corrections and comments
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Authors and funding
14 authors at 9 institutions in 7 countries.
Funding
Abstract
backgroundWolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. Hepatic dysfunction has been reported in 60% of patients.
aimsTo describe a cohort of WRS patients and discuss the pattern and management of their liver disease.
methodsDetailed phenotyping and direct sequencing of EIF2AK3 gene were conducted in all patients.
resultsTwenty-eight genetically confirmed patients (67% male; mean age 4.6 years) were identified. 17 different EIF2AK3 mutations were detected, of which 2 were novel. The p.S991N mutation was associated with prolonged survival and p.I650T with delayed onset. All patients presented before 25 months with diabetes with variation in the frequency and severity of 10 other features. Liver disease, first manifested as non-autoimmune hepatitis, was the commonest extra-pancreatic feature identified in 85.7% (24/28). 22/24 had at least one episode of acute hepatic failure which was the cause of death in all deceased patients (13/28). One child was treated by liver transplantation and had no liver disease and better diabetes control for the following 6 years.
conclusionsLiver disease in WRS is more frequent than previously described and carries high mortality. The first experience with liver transplantation in WRS is encouraging.
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