Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort
Background: Wolcott-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. Aims: To describe a cohort of WRS patients and discuss the pattern and management of their...
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Published in | Hormone research in paediatrics Vol. 83; no. 3; pp. 190 - 197 |
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Main Authors | , , , , , , , , , , , , , |
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Language | English |
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Basel, Switzerland
S. Karger AG
01.01.2015
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Abstract | Background: Wolcott-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. Aims: To describe a cohort of WRS patients and discuss the pattern and management of their liver disease. Methods: Detailed phenotyping and direct sequencing of EIF2AK3 gene were conducted in all patients. Results: Twenty-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. Conclusions: Liver 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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AbstractList | Wolcott-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.
To describe a cohort of WRS patients and discuss the pattern and management of their liver disease.
Detailed phenotyping and direct sequencing of EIF2AK3 gene were conducted in all patients.
Twenty-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.
Liver disease in WRS is more frequent than previously described and carries high mortality. The first experience with liver transplantation in WRS is encouraging. Background: Wolcott-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. Aims: To describe a cohort of WRS patients and discuss the pattern and management of their liver disease. Methods: Detailed phenotyping and direct sequencing of EIF2AK3 gene were conducted in all patients. Results: Twenty-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. Conclusions: Liver disease in WRS is more frequent than previously described and carries high mortality. The first experience with liver transplantation in WRS is encouraging. © 2015 S. Karger AG, Basel Background: Wolcott-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. Aims: To describe a cohort of WRS patients and discuss the pattern and management of their liver disease. Methods: Detailed phenotyping and direct sequencing of EIF2AK3 gene were conducted in all patients. Results: Twenty-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. Conclusions: Liver disease in WRS is more frequent than previously described and carries high mortality. The first experience with liver transplantation in WRS is encouraging. 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. |
Author | Abdullah, Mohammed Habeb, Abdelhadi M. Deeb, Asma Johnson, Matthew Al-Murshedi, Fathiya Flanagan, Sarah E. Al-Saif, Ramlah Tfayli, Hala Ramadan, Dina Abdulrasoul, Majidah Al-Awneh, Hussain Al-Maghamsi, Mohammed S.F. Al-Sinani, Siham Ellard, Sian |
AuthorAffiliation | b Endocrine and Diabetes Unit, Maternity and Children Hospital, Madinah, UK e Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK k Gastroenterology Unit, Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman d Paediatric Endocrinology Department, Mafraq Hospital, AbuDhabi, United Arab Emirates, UK g Paediatric Department, Kuwait University, Kuwait i Paediatric Endocrinology Division, Queen Rania Al Abdullah Hospital for Children, KHMC, RMS, Amman, Jordan j Genetic and Developmental Medicine Clinic, Muscat, Oman c Paediatric Department, Maternity and Children Hospital, Dammam, Saudi Arabia, UK l Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon a Paediatric Department, Prince Mohammed bin-Abdulaziz Hospital, Madinah, UK f Paediatric Department, Khartoum University, Khartoum, Sudan h Paediatric Department, Sabah Hospital, Kuwait |
AuthorAffiliation_xml | – name: i Paediatric Endocrinology Division, Queen Rania Al Abdullah Hospital for Children, KHMC, RMS, Amman, Jordan – name: g Paediatric Department, Kuwait University, Kuwait – name: e Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK – name: l Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon – name: j Genetic and Developmental Medicine Clinic, Muscat, Oman – name: a Paediatric Department, Prince Mohammed bin-Abdulaziz Hospital, Madinah, UK – name: k Gastroenterology Unit, Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman – name: b Endocrine and Diabetes Unit, Maternity and Children Hospital, Madinah, UK – name: d Paediatric Endocrinology Department, Mafraq Hospital, AbuDhabi, United Arab Emirates, UK – name: h Paediatric Department, Sabah Hospital, Kuwait – name: c Paediatric Department, Maternity and Children Hospital, Dammam, Saudi Arabia, UK – name: f Paediatric Department, Khartoum University, Khartoum, Sudan |
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Keywords | Hepatitis EIF2AK3 mutations Skeletal dysplasia Childhood diabetes Liver transplantation |
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Snippet | Background: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. Hepatic... Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. Hepatic dysfunction... BACKGROUNDWolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. Hepatic... |
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SubjectTerms | Child, Preschool Cohort Studies Comorbidity Diabetes Mellitus, Type 1 - genetics Diabetes Mellitus, Type 1 - mortality Diabetes Mellitus, Type 1 - surgery eIF-2 Kinase - genetics Epiphyses - abnormalities Epiphyses - surgery Female Hepatitis - genetics Hepatitis - mortality Hepatitis - surgery Humans Liver Failure - genetics Liver Failure - mortality Liver Failure - surgery Liver Transplantation Male Mutation Original Paper Osteochondrodysplasias - genetics Osteochondrodysplasias - mortality Osteochondrodysplasias - surgery |
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Title | Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort |
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