Different clinical entities of the same mutation: a case report of three sisters with Wolfram syndrome and efficacy of dipeptidyl peptidase-4 inhibitor therapy
Küçük Resim Yok
Tarih
2021
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Walter De Gruyter Gmbh
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Objectives: Wolfram syndrome (WS) is a rarely seen autosomal recessive multisystem neurodegenerative disorder caused by mutations in the WFS1 gene. Case Presentation: Three sisters with WS had diabetes mellitus (DM) at 4 years of age and optic atrophy. In addition, the first case had hearing impairment, and the second case had diabetes insipidus and urinary incontinence. Linagliptin was administered to the first case as add-on therapy to intensive insulin treatment 15 years after the onset of DM, and her insulin need showed a dramatic decrease. The third case had a remission phase one month after the onset of DM. Conclusions: Even in cases with the same mutation, symptoms and findings may widely vary in WS. Remission of diabetes has rarely been reported inWS. Also, this report describes the first trial of a dipeptidyl peptidase-4 inhibitor in a patient with WS which provided a decrease in exogenous insulin need.
Açıklama
Anahtar Kelimeler
DIDMOAD, dipeptidyl peptidase-4, Wolfram, Phenotype
Kaynak
Journal of Pediatric Endocrinology & Metabolism
WoS Q Değeri
Q4
Scopus Q Değeri
Q2
Cilt
34
Sayı
8
