Frequency and spectrum of Wolcott–Rallison syndrome in Saudi Arabia: a systematic review

Libyan journal of medicine

Abdelhadi M. Habeb¹ 

关键词: Wolcott–Rallison syndrome;    EIF2AK3 mutations;    Saudi Arabia;    neonatal diabetes;   

DOI  :  10.3402/ljm.v8i0.21137

学科分类：医学（综合）

来源: Co-Action Publishing

【 摘 要 】

BackgroundWolcott–Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis. The frequency of this rare syndrome is largely unknown.ObjectivesTo define the frequency and spectrum of WRS in the Kingdom of Saudi Arabia (KSA) based on published data.MethodsThe Medline database was searched for published articles on WRS. The number of reported cases from KSA was compared to the total number of WRS cases reported worldwide. The genotype and phenotype of WRS patients from KSA were reviewed.ResultsTen articles describing 23 WRS patients from 12 Saudi families from 1995 to 2012 were identified. This figure accounts for 27.7% (23/83) of the patients and 22.2% (12/54) of the families with WRS reported worldwide until January 2013. All Saudi patients with WRS presented with PNDM, and they represent 59% of all PNDM cases from WRS. At reporting, 73% of patients experienced recurrent hepatitis, 56.5% had ske...

【 授权许可】

CC BY