Noah Gruber1,2, Orit Pinhas-Hamiel3,4,5. 1. Pediatric Endocrine and Diabetes Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. noah.gruber@sheba.health.gov.il. 2. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. noah.gruber@sheba.health.gov.il. 3. Pediatric Endocrine and Diabetes Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. orit.hamiel@sheba.health.gov.il. 4. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. orit.hamiel@sheba.health.gov.il. 5. The National Juvenile Diabetes Center, Maccabi Health Care Services, Ra'anana, Israel. orit.hamiel@sheba.health.gov.il.
Abstract
PURPOSEOF REVIEW: This review aims to provide an update on the etiologies of diabetes that are due to genetic disorders and that co-occur with impaired hearing or vision and to compare them. The potential mechanisms, including novel treatments, will be detailed. RECENT FINDINGS: Wolfram syndrome, Kearns-Sayre syndrome, thiamine-responsive megaloblastic anemia, and maternally inherited diabetes and deafness are genetic disorders characterized by diabetes, impaired hearing, and vision. They differ in mode of inheritance, age at presentation, and the involvement of other organs; they are often misdiagnosed as type 1 or type 2 diabetes. Suspicion of a genetic diabetes syndrome should be raised when pancreatic autoantibodies are negative, other organs are involved, and family history includes diabetes. Correct diagnosis of the various syndromes is important for tailoring the most advanced treatment, preventing disease progression, and enabling proper genetic counseling.
PURPOSEOF REVIEW: This review aims to provide an update on the etiologies of diabetes that are due to genetic disorders and that co-occur with impaired hearing or vision and to compare them. The potential mechanisms, including novel treatments, will be detailed. RECENT FINDINGS: Wolfram syndrome, Kearns-Sayre syndrome, thiamine-responsive megaloblastic anemia, and maternally inherited diabetes and deafness are genetic disorders characterized by diabetes, impaired hearing, and vision. They differ in mode of inheritance, age at presentation, and the involvement of other organs; they are often misdiagnosed as type 1 or type 2 diabetes. Suspicion of a genetic diabetes syndrome should be raised when pancreatic autoantibodies are negative, other organs are involved, and family history includes diabetes. Correct diagnosis of the various syndromes is important for tailoring the most advanced treatment, preventing disease progression, and enabling proper genetic counseling.
Authors: Andrew T Hattersley; Siri A W Greeley; Michel Polak; Oscar Rubio-Cabezas; Pål R Njølstad; Wojciech Mlynarski; Luis Castano; Annelie Carlsson; Klemens Raile; Dung V Chi; Sian Ellard; Maria E Craig Journal: Pediatr Diabetes Date: 2018-10 Impact factor: 4.866
Authors: Elisa De Franco; Sarah E Flanagan; Takuya Yagi; Damien Abreu; Jana Mahadevan; Matthew B Johnson; Garan Jones; Fernanda Acosta; Mphele Mulaudzi; Ngee Lek; Vera Oh; Oliver Petz; Richard Caswell; Sian Ellard; Fumihiko Urano; Andrew T Hattersley Journal: Diabetes Date: 2017-05-03 Impact factor: 9.461
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