Wolfram sendromu Wolfram|syndrome Wolfram-Syndrom Σύνδρομο Wolfram Síndrome de Wolfram Syndrome de Wolfram ウォルフラム症候群 Wolfram-syndroom Síndrome de Wolfram Синдром Вольфрама Wolfram syndrome

**Wolfram sendromu** ya da **DIDMOAD**, genetik geçişli nörodejeneratif nadir bir hastalık. Wolfram|syndrome|or|also|DIDMOAD|genetic|inherited|neurodegenerative|rare|a|disease |症候群|||DIDMOAD|遺伝性||||| ||||||ärftlig|neurodegenerativ|sällsynt|| Wolfram syndrome or DIDMOAD is a rare genetic neurodegenerative disease.

Wolfram sendromu; juvenil başlangıçlı diabetes mellitus ve optik atrofi kombinasyonunda tanı alan bilinen bir hastalıktır. Wolfram|syndrome|juvenile|onset|diabetes|mellitus|and|optic|atrophy|in combination|diagnosis|receiving|known|a| |||startande||||||||||| Wolfram syndrome is a well-known condition diagnosed in combination with juvenile-onset diabetes mellitus and optic atrophy.

Diabetes insipidus (**DI**), diabetes mellitus (**DM**), optik atrofi (**OA**) ve nörosensoriyel işitme kaybı (__**D**eafness__ = İngilizcede sağırlık) bu sendromda görülen hastalıklar olduğundan **DIDMOAD** olarak da anılmaktadır. Diabetes|insipidus|(DI)|Diabetes|mellitus|(DM)|optic|atrophy|(OA)|and|neurosensory|hearing|loss||||deafness)|this|in the syndrome|seen|diseases|since|DIDMOAD|as|also|is referred to |尿崩症|尿崩症|||糖尿病|||視神経萎縮|||聴覚喪失|喪失||聴覚障害|英語で|難聴||症候群で|見られる|病気|||||呼ばれています |||||||||||hörsel|hörseloss||||||||||||| Diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and sensorineural hearing loss (Deafness) are diseases seen in this syndrome, hence it is also referred to as DIDMOAD.

İlk olarak Dr. Don J. Wolfram tarafından 1938 yılında tanımlanmıştır. |as|Dr|Don|J|Wolfram|by|in the year|was defined |||ドン|||によって|年に|定義されました It was first described by Dr. Don J. Wolfram in 1938.

Patogenez Pathogenesis 病因形成 Pathogenesis

Hastalığın patogenezi pek bilinmemekle birlikte genetik kökenli nörodejeneratif bir hastalık olduğu günümüzde anlaşılmıştır. The disease|pathogenesis|not very|being known|together|genetic|origin|neurodegenerative|a|disease|that is|in today's world|has been understood 病気の|病因||知られていないが|||遺伝性の|||||| Although the pathogenesis of the disease is not well understood, it has been recognized today as a genetically derived neurodegenerative disease.

Genetik geçişi hastaların çoğunda otozomal resesif olmakla beraber, mitokondriyal geçiş gösterilen hastalarda rapor edilmiştir. Genetic|transmission|patients'|in most|autosomal|recessive|being|together|mitochondrial|transmission|shown|in diseases|reported|has been Die genetische Vererbung ist bei den meisten Patienten autosomal rezessiv, es wurde jedoch auch über eine mitochondriale Vererbung bei Patienten berichtet. While the genetic transmission is mostly autosomal recessive in most patients, cases with mitochondrial transmission have been reported.

Prognoz Forecast Prognosis

Genellikle, Tip I DM ve optik atrofi ilk 10 yıl içinde, sağırlık ve Dİ 10'lu yaşlar arasında ortaya çıkmakta; 20'li yaşlarında nefrolojik sorunlar, 30'lu yaşlarda ise multiple nörolojik anomaliler ortaya çıkmaktadır. Generally|Type|I|Diabetes Mellitus|and|optic|atrophy|first|years|within|deafness|and||in the 10s|years|between|arise|occurring|in the 20s|years|nephrological|problems|in the 30s|years|while|multiple|neurological|anomalies|arise|occurring Im Allgemeinen treten Typ-I-DM und Optikusatrophie in den ersten 10 Jahren auf, Taubheit und DI im 10. Jahrzehnt, nephrologische Probleme in den 20ern und multiple neurologische Anomalien in den 30ern. Generally, Type I DM and optic atrophy occur within the first 10 years, deafness and ID appear in the teenage years; nephrological issues arise in the 20s, and multiple neurological anomalies emerge in the 30s. Hastaların çoğunda tüm bu semptomlar hızla ilerlemektedir. The patients|in most|all|these|symptoms|rapidly|progress Bei den meisten Patienten schreiten all diese Symptome rasch voran. Most patients experience all these symptoms rapidly progressing.

Wolfram sendromu tanısı alan kişilerin %60'ı, 35 yaşından daha uzun yaşayamamakta ve genelde beyin sapının atrofisi sonucunda solunum yetmezliğinden ölmektedirler. Wolfram|syndrome|diagnosis|received|individuals|60%|from age|longer|long||and|generally|brain|stem|atrophy|as a result of|respiratory|failure| Sechzig Prozent der Menschen, bei denen das Wolfram-Syndrom diagnostiziert wird, werden nicht älter als 35 Jahre und sterben an Atemversagen, in der Regel als Folge einer Atrophie des Hirnstamms. 60% of individuals diagnosed with Wolfram syndrome do not live beyond the age of 35 and generally die from respiratory failure due to brainstem atrophy.

Bu hastalıkta, özellikle hipotalamusun etkilenmesi nedeniyle DI gelişmekte, ayrıca genellikle bu hastalarda cinsiyet hormonlarının üretiminde sorun olması nedeniyle, hastalar ergenliğe geç girmektedir. This|in disease|especially|hypothalamus|impairment|due to|diabetes insipidus|develops|also|generally|these|patients|sex|hormones|in production|problem|being|due to|patients|puberty|late|enter Bei dieser Krankheit entwickelt sich DI vor allem deshalb, weil der Hypothalamus betroffen ist und die Patienten aufgrund von Problemen bei der Produktion von Sexualhormonen meist erst spät in die Pubertät kommen. In this disease, diabetes insipidus (DI) develops particularly due to the involvement of the hypothalamus, and also, due to issues with the production of sex hormones in these patients, they tend to enter puberty late.

Ayrıca bu hastalar genelde kısır olmaktadır. Additionally|these|patients|usually|infertile|are Darüber hinaus sind diese Patienten in der Regel unfruchtbar. Additionally, these patients are generally infertile. Ayrıca genetik taşıyıcı olarak adlandırabilceğimiz çok hafif seyreden kişilerde genellikle sadece geç başlangıçlı DM görülebilmekte, ve bu kişilerin çocukları bu sendrom açısından büyük risk altındadır. Additionally|genetic|carrier|as|we could call|very|mild|progressing|in individuals|generally|only|late|onset|diabetes mellitus|can be seen|and|these|individuals'|children|this|syndrome|in terms of|great|risk|are at risk Darüber hinaus gibt es Menschen mit einem sehr milden Verlauf, die wir als genetische Träger bezeichnen können, bei denen die DM in der Regel erst spät einsetzt, und die Kinder dieser Menschen sind einem großen Risiko für dieses Syndrom ausgesetzt. Moreover, in individuals who can be described as very mildly affected carriers, usually only late-onset diabetes mellitus (DM) is observed, and the children of these individuals are at high risk for this syndrome.

Bu nedenlerden ötürü Wolfram sendromlu çocuğu olan kişilerin, yeni çocuk düşünmeseler dahi, tüm aile bireylerinin genetik testten geçmesi önerilmektedir. This|reasons|due to|Wolfram|syndrome|child|having|individuals|new|child|they may not consider|even|all|family|members|genetic|test|undergoing|is recommended Aus diesen Gründen wird allen Familienmitgliedern von Personen, die ein Kind mit Wolfram-Syndrom haben, empfohlen, sich einem Gentest zu unterziehen, auch wenn sie kein neues Kind planen. For these reasons, it is recommended that all family members of individuals with Wolfram syndrome, even if they do not plan to have new children, undergo genetic testing.

Bununla beraber, DIDMOAD oldukça nadir görülen bir hastalık, olup Birleşik Krallık'ta prevelansı 1/770.000 canlı doğumdur. this|together|DIDMOAD|quite|rare|seen|a|disease|and|United|Kingdom|prevalence|live|birth Mit einer Prävalenz von 1/770.000 Lebendgeburten im Vereinigten Königreich ist DIDMOAD jedoch eine extrem seltene Krankheit. However, DIDMOAD is a very rare disease, with a prevalence of 1 in 770,000 live births in the United Kingdom.