Endocrinology and Metabolism

  • 제25권2호
  • /
  • Pages.131-134
  • /
  • 2010
  • /
  • 2093-596X(pISSN)
  • /
  • 2093-5978(eISSN)
대한내분비학회 (The Korean Endocrine Society)
권호 표지
DOI QR코드

DOI QR Code

성인에서 제2형 당뇨병을 동반한 울프람 유사 질환 1예

A Case of Wolfram Like Disorder with Type 2 Diabetes Mellitus in an Adult

  • Choi, Sung-Uk (Department of Internal Medicine, Dongkang Medical Center) ;
  • Bae, Soo-Kyung (Department of Internal Medicine, Dongkang Medical Center) ;
  • Kim, Hyun-Soo (Department of Internal Medicine, Dongkang Medical Center) ;
  • Kim, Kyung-Rok (Department of Internal Medicine, Dongkang Medical Center) ;
  • Hur, Ki-Hwan (Department of Internal Medicine, Dongkang Medical Center) ;
  • Lim, Sung-Hyup (Department of Opthalmology, Dongkang Medical Center) ;
  • Hong, Young-Ae (Department of Laboratory Medicine, Dongkang Medical Center) ;
  • Chung, Sung-Chang (Department of Internal Medicine, Dongkang Medical Center)
  • 투고 : 2009.10.28
  • 심사 : 2010.01.05
  • 발행 : 2010.06.30
⟨ 이전 논문 다음 논문 ⟩

초록

울프람 유사 질환은 WFS1 관련질환 중 하나이며 WFS1 관련질환은 당뇨, 시신경 위축, 난청 등을 특징으로 하는 유전질환이다. 아직까지 유병률에 비해서 국내에서 보고된 바가 없다. 이는 일반적으로 의료인에게 WFS1 관련 질환이 아직까지 보편적으로 알려져 있는 않은 것과도 관련 있다고 하겠다. 이른 시기에 당뇨, 청력 소실 및 시신경 위축이 있다면 WFS1 관련 질환을 염두에 두어야 한다. 저자들은 WFS1에 대한 WFS1 유전자 돌연변이 보고는 전 세계적으로 다양하게 보고되고 있으나 국내에선 아직 보고된 바가 없어 본 예를 보고하는 바이다.

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.

키워드

참고문헌

  1. Wolfram DJ, Wagener HP: Diabetes mellitus and simple optic atrophy among siblings. Mayo Clin Proc 13:715-718, 1938
  2. Blasi C, Pierelli F, Rispoli E, Saponara M, Vingolo E, Andreani D: Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution. Diabetes Care 9:521-528, 1986 https://doi.org/10.2337/diacare.9.5.521
  3. Riggs AC, Bernal-Mizrachi E, Ohsugi M, Wasson J, Fatrai S, Welling C, Murray J, Schmidt RE, Herrera PL, Permutt MA: Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis. Diabetologia 48:2313-2321, 2005 https://doi.org/10.1007/s00125-005-1947-4
  4. Gomez-Zaera M, Strom TM, Rodriguez B, Estivill X, Meitinger T, Nunes V: Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigree. Mol Genet Metab 72:72-81, 2001 https://doi.org/10.1006/mgme.2000.3107
  5. Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA: A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 20:143-148, 1998 https://doi.org/10.1038/2441
  6. Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y, Oba J, Watanabe Y, Shinoda K, Oka Y: WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet 10:477-484, 2001 https://doi.org/10.1093/hmg/10.5.477
  7. Barrett TG, Bundey SE, Macleod AF: Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 346:1458-1463, 1995 https://doi.org/10.1016/S0140-6736(95)92473-6
  8. Karasik A, O'Hara C, Srikanta S, Swift M, Soeldner JS, Kahn CR, Herskowitz RD. Genetically programmed selective islet beta-cell loss in diabetic subjects with Wolfram's syndrome. Diabetes Care 12:135-138, 1989 https://doi.org/10.2337/diacare.12.2.135
  9. Cano A, Molines L, Valero R, Simonin G, Paquis-Flucklinger V, Vialettes B; French Group of Wolfram Syndrome: 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. Diabetes Care 30:2327-2330, 2007 https://doi.org/10.2337/dc07-0380
  10. Pennings RJ, Huygen PL, van den Ouweland JM, Cryns K, Dikkeschei LD, Van Camp G, Cremers CW: Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations. Audiol Neurootol 9:51-62, 2004 https://doi.org/10.1159/000074187
  11. Sequeira A, Kim C, Seguin M, Lesage A, Chawky N, Desautels A, Tousignant M, Vanier C, Lipp O, Benkelfat C, Rouleau G, Turecki G: Wolfram syndrome and suicide: evidence for a role of WFS1 in suicidal and impulsive behavior. Am J Med Genet B Neuropsychiatr Genet 119B:108-113, 2003 https://doi.org/10.1002/ajmg.b.20011
  12. Garbreels BA, Swaab DF, de Klejin DP, Dean A, Seidah NG, Van de Loo JW, Van de Ven WJ, Martens GJ, Van Leeuwen FW: The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2. J Clin Endocrinol Metab 83:4026-4033, 1998 https://doi.org/10.1210/jc.83.11.4026
  13. Scolding NJ, Kellar-Wood HF, Shaw C, Shneerson JM, Antoun N: Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy. Ann Neurol 39:352-360, 1996 https://doi.org/10.1002/ana.410390312
  14. Ohata T, Koizumi A, Kayo T, Shoji Y, Watanabe A, Monoh K, Higashi K, Ito S, Ogawa O, Wada Y, Takada G: Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family. Hum Genet 103:470-474, 1998 https://doi.org/10.1007/s004390050852
  15. Swift RG, Polymeropoulos MH, Torres R, Swift M: Predisposition of Wolfram syndrome heterozygotes to psychiatric illness. Mol Psychiatry 3:86-91, 1998 https://doi.org/10.1038/sj.mp.4000344
  16. Khanim F, Kirk J, Latif F, Barrett TG: WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat 17:357-367, 2001 https://doi.org/10.1002/humu.1110
  17. Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G: Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat 22:275-287, 2003 https://doi.org/10.1002/humu.10258
  18. Valero R, Bannwarth S, Roman S, Paquis-Flucklinger V, Vialettes B: Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to missense mutation in the WFS1 gene. Diabet Med 25:657-661, 2008 https://doi.org/10.1111/j.1464-5491.2008.02448.x
  19. Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjaerg L: Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet 43:435-440, 2006
  20. Ohtsuki T, Ishiguro H, Yoshikawa T, Arinami T: WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder. J Affect Disord 58:11-17, 2000 https://doi.org/10.1016/S0165-0327(99)00099-3