Sefika Ilknur Kökcü Karadag, Medine Karadağ Alpaslan, Hüseyin Karadağ, Eda Turgut Uğurtay, Cansu Can, Alisan Yildiran
Departments of Pediatric Allergy and Immunology.
Medical Genetics.
J Pediatr Hematol Oncol. 2025 Apr 1;47(3):109-114. doi: 10.1097/MPH.0000000000003008. Epub 2025 Mar 24.
Congenital CD59 deficiency is a rare genetic disorder marked by chronic hemolysis, recurrent cerebrovascular events, and chronic inflammatory demyelinating polyneuropathy (CIDP). In a specific clinic, 3 siblings from a consanguineously married family were diagnosed with this condition, suggesting a genetic predisposition in their village where endogamous marriages are common.
Genetic screening was conducted on 71 individuals from the village, including relatives of the diagnosed siblings, to investigate the prevalence and genetic transmission of the disorder.
The screening identified 18 carriers of the genetic mutation and revealed 2 additional siblings of the index patient with the disease. A past case of a cousin with a similar clinical history was also uncovered.
The findings highlight the increased risk of genetic disorders like CD59 deficiency in populations with frequent consanguineous marriages. The study underscores the importance of genetic counseling and preventive measures in such communities to mitigate the risk of congenital disorders.
先天性CD59缺乏症是一种罕见的遗传性疾病，其特征为慢性溶血、复发性脑血管事件和慢性炎症性脱髓鞘性多发性神经病（CIDP）。在某一特定诊所，一个近亲结婚家庭的3名兄弟姐妹被诊断患有此病，这表明在他们所在的村庄存在遗传易感性，那里近亲结婚很常见。
对该村庄的71人进行了基因筛查，包括已确诊兄弟姐妹的亲属，以调查该疾病的患病率和遗传传递情况。
筛查确定了18名基因突变携带者，并发现了索引患者另外2名患有该病的兄弟姐妹。还发现了一名有类似临床病史的堂兄弟的既往病例。
研究结果凸显了在近亲结婚频繁的人群中，像CD59缺乏症这样的遗传性疾病风险增加。该研究强调了在此类社区进行遗传咨询和预防措施以降低先天性疾病风险的重要性。
