Öz
Abstract
Wolfram syndrome is autosomal recessive dysmorphogenetical disease and it is characterized with the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Patients demonstrate neurological abnormalities, psychological disorders and urinary tract abnormalities. The mutations of the
Wolfram syndrome 1 gene, which encodes Wolframin are responsible for the majority of cases of Wolfram syndrome. With genetic analysis of patient with suspected features, the early diagnosis becomes an achievable reality. Early diagnosis and adequate hormonal supplementation can improve their quality of
life. We report here, a 28-year-old woman with a medical history of tip 1 diabetes mellitus and bilateral hydronephrosis and poliuria and diagnosed Wolfram syndrome.
Anahtar Kelimeler
Diabetes insipidus Urinary tract abnormalities Wolfram syndrome
Kaynakça
- Wolfram DJ. Diabetes mellitus and simple optic atrophy among siblings: A report of four cases. Proc Mayo Clin 1938;13:715- 718.
- Barrett TG, Bundey SE. Wolfram (DIDMOAD) syndrome. J Med Genet 1997;34(10):838-841.
- Hilson JB, Merchant SN, Adams JC, Joseph JT. Wolfram syndrome: a clinicopathologic correlation. Acta Neuropathol. 2009 May 16. Epub ahead of print.
- Hofmann S, Philbrook C, Gerbitz KD, Bauer MF. Wolfram syndrome: Structural and functional analyses of mutant and wildtype wolframin, the WFS1 gene product. Hum Mol Genet 2003;12:2003-2012.
- Zmysłowska A, Borowiec M, Fendler W, Jarosz PS, Myśliwiec M, Szadkowska A et al. The prevalence of Wolfram syndrome in a paediatric population with diabetes. EndokrynologiaPolska 2014:65(4),295–297.
- Barrett T.G, Bundey, S.E, Macleod A.F. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome”, Lancet, 1995 2;346 (8988):1458-1463.
- Jayne AL, Lynne AR, Christopher R, Timothy GB. Wolfram Syndrome. Reviews End Met Dis 2003;4:53-59.
- Tekgul S, Oge O, Simsek E, Yordam N, Kendi S. Urological manifestations of the Wolfram syndrome: observations in 14 patients. J Urol 1999;161(2):616–617.
- Cremers CWR, Wijdeveld PGAB, Pinckers AJLG. Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder and other abnormalities (Wolfram syndrome). Acta Paediatr Scand Suppl.1977;(264):1-16.
- Hattori H, Inada H, Tanaka K. Auditory brainstem responses (ABR) in patients with Wolfram syndrome. No To Hattatsu 1998;30(5):387-393.
- Rose FC, Fräser GR, Friedmann AI, Kohner EM. The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects. Q J Med 1966;35:385-405.
- Urano F. Wolfram syndrome: diagnosis, management, and treatment. Curr. diabetes Rep. 2016:16(1).
- EI-Shanti H, Lidral AC, Jarrah N, Druhan L, Ajlouni K. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am J Hum Genet 2000;66:1229- 1236.
- Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen , Bille M. et al. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet 2006; 43:435- 440.
Öz
Özet
Wolfram sendromu, diyabetes mellitus, optik atrofi, diyabetes insipitus, işitme kaybı ile karakterize otozomal resesif geçiş gösteren genetik bir hastalıktır. Hastalarda nörolojik rahatsızlıklar, üriner sistem hastalıkları ve psikolojik rahatsızlıklarda izlenir. Vakaların büyük kısmında Wolframin proteinini kodlayan
Wolfram sendrom gen-1 deki mutasyonlar sorumludur. Şüpheli vakalarda genetik tanı ile erken tanı konularak, gerekli hormonal tedavinin başlanması ve yaşam kalitesinin artması mümkündür. Bu yazıda, tip 1 diyabetes mellitus tanısı ile takip edilirken bilateral hidronefroz ve poliüri nedeni ile tetkik edilen ve
Wolfram sendromu tanısı alan 28 yaşında kadın vakayı sunduk.
Anahtar Kelimeler
Diabetes insipidus Üriner sistem anomalileri Wolfram sendromu
Kaynakça
- Wolfram DJ. Diabetes mellitus and simple optic atrophy among siblings: A report of four cases. Proc Mayo Clin 1938;13:715- 718.
- Barrett TG, Bundey SE. Wolfram (DIDMOAD) syndrome. J Med Genet 1997;34(10):838-841.
- Hilson JB, Merchant SN, Adams JC, Joseph JT. Wolfram syndrome: a clinicopathologic correlation. Acta Neuropathol. 2009 May 16. Epub ahead of print.
- Hofmann S, Philbrook C, Gerbitz KD, Bauer MF. Wolfram syndrome: Structural and functional analyses of mutant and wildtype wolframin, the WFS1 gene product. Hum Mol Genet 2003;12:2003-2012.
- Zmysłowska A, Borowiec M, Fendler W, Jarosz PS, Myśliwiec M, Szadkowska A et al. The prevalence of Wolfram syndrome in a paediatric population with diabetes. EndokrynologiaPolska 2014:65(4),295–297.
- Barrett T.G, Bundey, S.E, Macleod A.F. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome”, Lancet, 1995 2;346 (8988):1458-1463.
- Jayne AL, Lynne AR, Christopher R, Timothy GB. Wolfram Syndrome. Reviews End Met Dis 2003;4:53-59.
- Tekgul S, Oge O, Simsek E, Yordam N, Kendi S. Urological manifestations of the Wolfram syndrome: observations in 14 patients. J Urol 1999;161(2):616–617.
- Cremers CWR, Wijdeveld PGAB, Pinckers AJLG. Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder and other abnormalities (Wolfram syndrome). Acta Paediatr Scand Suppl.1977;(264):1-16.
- Hattori H, Inada H, Tanaka K. Auditory brainstem responses (ABR) in patients with Wolfram syndrome. No To Hattatsu 1998;30(5):387-393.
- Rose FC, Fräser GR, Friedmann AI, Kohner EM. The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects. Q J Med 1966;35:385-405.
- Urano F. Wolfram syndrome: diagnosis, management, and treatment. Curr. diabetes Rep. 2016:16(1).
- EI-Shanti H, Lidral AC, Jarrah N, Druhan L, Ajlouni K. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am J Hum Genet 2000;66:1229- 1236.
- Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen , Bille M. et al. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet 2006; 43:435- 440.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Erken Görünüm Tarihi | 11 Temmuz 2022 |
| Yayımlanma Tarihi | 15 Temmuz 2022 |
| Gönderilme Tarihi | 11 Şubat 2021 |
| Kabul Tarihi | 14 Mart 2021 |
| Yayımlandığı Sayı | Yıl 2022 Cilt: 17 Sayı: 2 |
