성인에서 제2형 당뇨병을 동반한 울프람 유사 질환 1예 = A Case of Wolfram Like Disorder with Type 2 Diabetes Mellitus in an Adult

다국어 초록 (Multilingual Abstract)

Wolfram-like disorder is one of the WFS1-related disorders that are caused by mutation of the WFS1 genes. WFS1-related disorders are classified as Wolfram syndrome, Wolfram like disorder and nonsyndromic low-frequency sensorineural hearing loss (DFNA6/14/38). Wolfram syndrome is known to DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness), and it is an autosomal-recessive disorder that predisposes a patient to developing type 1 diabetes in association with progressive optic atrophy,and the disease shows various phenotypes. Wolfram like disorder is an autosomal-dominant disorder that predisposes a patient to develop type 2 diabetes in association with optic atrophy and hearing impairment. We experienced a case of Wolfram like disorder with diabetes, optic atrophy and sensorineural hearing loss in a 28-year-old woman who was admitted to our hospital. Our case demonstrated the E737K missense mutation on the WFS1 gene, which has been previously reported in the medical literature. The diagnosis of WFS1-related disorder was confirmed by the clinical features and molecular genetic testing of the WFS1 gene.

참고문헌 (Reference)

1 Blasi C, "Wolfram’s syndrome:a clinical,diagnostic,and interpretative contribution" 9 : 521-528, 1986

2 Scolding NJ, "Wolfram syndrome:hereditary diabetes mellitus with brainstem and optic atrophy" 39 : 352-360, 1996

3 Sequeira A, "Wolfram syndrome and suicide: evidence for a role of WFS1 in suicidal and impulsive behavior" 119B : 108-113, 2003

4 Khanim F, "WFS1/wolframin mutations,Wolfram syndrome,and associated diseases" 17 : 357-367, 2001

5 Takeda K, "WFS1(Wolfram syndrome 1)gene product:predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain" 10 : 477-484, 2001

6 Ohtsuki T, "WFS1 gene mutation search in depressive patients:detection of five missense polymorphisms but no association with depression or bipolar affective disorder" 58 : 11-17, 2000

7 Garbreels BA, "The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus:evidence for the involvement of PC2 and 7B2" 83 : 4026-4033, 1998

8 Pennings RJ, "Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations" 9 : 51-62, 2004

9 Gomez-Zaera M, "Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigree" 72 : 72-81, 2001

10 Swift RG, "Predisposition of Wolfram syndrome heterozygotes to psychiatric illness" 3 : 86-91, 1998

11 Barrett TG, "Neurodegeneration and diabetes:UK nationwide study of Wolfram(DIDMOAD)syndrome" 346 : 1458-1463, 1995

12 Cryns K, "Mutational spectrum of the WFS1 gene in Wolfram syndrome,nonsyndromic hearing impairment,diabetes mellitus,and psychiatric disease" 22 : 275-287, 2003

13 Cano A, "Microvascular diabetes complications in Wolfram syndrome(diabetes insipidus,diabetes mellitus,optic atrophy,and deafness [DIDMOAM]):an age-and duration-matched comparison with common type 1 diabetes" 30 : 2327-2330, 2007

14 Riggs AC, "Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis" 48 : 2313-2321, 2005

15 Karasik A, "Genetically programmed selective islet beta-cell loss in diabetic subjects with Wolfram’s syndrome" 12 : 135-138, 1989

16 Ohata T, "Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family" 103 : 470-474, 1998

17 Wolfram DJ, "Diabetes mellitus and simple optic atrophy among siblings" 13 : 715-718, 1938

18 Valero R, "Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to missense mutation in the WFS1 gene" 25 : 657-661, 2008

19 Eiberg H, "Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene" 43 : 435-440, 2006

20 Inoue H, "A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy(Wolfram syndrome)" 20 : 143-148, 1998