Recurrent Hepatitis in Two Iranian Children: A Novel (Q166R) Mutation in EIF2AK3 Leading to Wolcott-Rallison Syndrome
| العنوان: | Recurrent Hepatitis in Two Iranian Children: A Novel (Q166R) Mutation in EIF2AK3 Leading to Wolcott-Rallison Syndrome |
|---|---|
| المؤلفون: | Maryam Razzaghy Azar, Ali Ahani, Babak Behnam, Marjan Shakiba |
| المصدر: | Hepatitis Monthly |
| بيانات النشر: | Kowsar, 2013. |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Hepatitis, Spondyloepiphyseal dysplasia, Pediatrics, medicine.medical_specialty, Hepatology, business.industry, Spondyloepiphyseal Dysplasia, Case Report, medicine.disease, Osteopenia, Infectious Diseases, Diabetes mellitus, Diabetes Mellitus, Medicine, Missense mutation, EIF2AK3, business, Wolcott–Rallison syndrome, Wolcott-Rallison Syndrome, Subclinical infection |
| الوصف: | Early-onset diabetes, liver dysfunction, growth retardation, spondyloepiphyseal dysplasia, and tendency to skeletal fractures due to osteopenia are characteristics of Wolcott-Rallison syndrome (WRS). Eukaryotic translation initiation factor 2α kinase (EIF2AK3) is the only known gene, which is responsible for this rare autosomal recessive disorder. Here, we report two siblings a girl and a boy with diabetes mellitus (DM) who presented in one and two months of age respectively. Recurrent self-limiting hepatitis developed later, and severe hepatic failure resulted in death of the first child. The second child visited was a 7.75 year old boy who had spondyloepiphyseal dysplasia and subclinical hypothyroidism besides DM and recurrent hepatitis. We suggested WRS for this patient, and it was confirmed by identification of a novel homozygous missense mutation (Q166R) in exon 3 of the EIF2AK3 gene. The aim of this report is to remind the possibility of WRS in isolated neonatal diabetes; while, the other clinical manifestations of this syndrome including its major symptom of recurrent hepatitis may appear later. |
| اللغة: | English |
| تدمد: | 1735-3408 1735-143X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de86899e2cb7fce82538b87893dbb9cfTest http://europepmc.org/articles/PMC3759778Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....de86899e2cb7fce82538b87893dbb9cf |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17353408 1735143X |
|---|