Rare form of Permanent Neonatal Diabetes Mellitus (PNDM) due to novel mutation in EIF2AK3 gene (Wolcott—Rallison syndrome)
Yulia Viktorovna Tikhonovich,
Olga Vasil'evna Stotikova,
Petr Mikhaylovich Rubtsov, 
Anatoly Nikolaevich Tiulpakov
Anatoly Nikolaevich Tiulpakov https://doi.org/10.14341/probl201561631-35
Abstract
Wolcott—Rallison syndrome (WRS) is a rare genetic disease inherited in autosomal recessive way. Сlinical manifestations develop in early infancy with symptoms of permanent neonatal diabetes mellitus (PNDM), skeletal dysplasia, short stature and hepatic dysfunction. The condition has poor prognosis and most patients die at a young age due to episodes of acute liver or renal failure. To date about 60 genetically proved cases of WRS have been reported worldwide. The disease is most common in countries where consanguineous marriages are frequent, such as the Saudi Arabia (60% cases of PNDM patients), India, Turkey, Pakistan and North Africa. In Russian Federation WRS patients have not been described earlier.
About the Authors
Yulia Viktorovna Tikhonovich
Endocrinology Research Centre
Russian Federation
MD, PhD
Competing Interests: конфликт интересов отсутствует
Russian Federation
MD, PhD
Competing Interests: конфликт интересов отсутствует
Olga Vasil'evna Stotikova
Russian Children Clinical Hospital
Russian Federation
MD
Competing Interests: конфликт интересов отсутствует
Russian Federation
MD
Competing Interests: конфликт интересов отсутствует
Petr Mikhaylovich Rubtsov
Engelhardt Institute of Molecular Biology
Russian Federation
PhD
Competing Interests: конфликт интересов отсутствует
Russian Federation
PhD
Competing Interests: конфликт интересов отсутствует
Anatoly Nikolaevich Tiulpakov
Endocrinology Research Centre
Russian Federation
MD, PhD
Competing Interests: конфликт интересов отсутствует
Russian Federation
MD, PhD
Competing Interests: конфликт интересов отсутствует
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Review
For citations:
Tikhonovich Yu.V., Stotikova O.V., Rubtsov P.M., Tiulpakov A.N. Rare form of Permanent Neonatal Diabetes Mellitus (PNDM) due to novel mutation in EIF2AK3 gene (Wolcott—Rallison syndrome). Problems of Endocrinology. 2015;61(6):31-35. https://doi.org/10.14341/probl201561631-35
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