在典型的低收入环境中,阿尔波特综合症可能有助于实现大多胎。

IF 1.5 Q3 HEALTH CARE SCIENCES & SERVICES
Victoria I Ogala-Akogwu, Peter K Uduagbamen, Emmauuel A Anteyi, Habib A Galadanci
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引用次数: 0

摘要

阿尔波特综合征(AS)是一种罕见的遗传性疾病,影响肾小球、耳蜗和晶状体的基底膜。它表现为视觉和听力缺陷,以及肾脏疾病,可发展为终末期肾衰竭和死亡。26岁男性,有3周的身体肿胀史,尿泡沫化,血尿恶化,听力和视力障碍分别持续17年和10年。他的三个兄弟姐妹(两男一女)也有类似症状。通过对两位妻子的孩子进行分子遗传筛查,发现了COL4A5基因的致病突变,证实了患者及其三个母亲兄弟姐妹患有x连锁AS。该患者接受了维护性血液透析(HD),随后进行了两次失败的活体肾移植,并在第二次移植一年后,在常规透析几小时后在睡眠中死亡。一个家庭中多例阿斯伯格综合症死亡可有助于实现大多胎平价,特别是在低收入环境中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Alport Syndrome May contribute to Grand Multiparity in a Typical Low Income Setting.

Alport syndrome (AS) is a rare, inherited disorder affecting the basement membranes of the glomerulus, cochlea, and lens. It presents with visual and hearing deficits, as well as kidney disease, which can progress to end-stage renal failure and death. A 26-year-old male presented with a three-week history of body swelling, foamy urine, worsening hematuria, and hearing and visual impairments of 17- and 10-years' duration, respectively. Three of his siblings (two males and one female) had similar symptoms. Molecular genetic screening, involving children from the two wives, identified a pathogenic mutation in the COL4A5 gene, confirming X-linked AS in the patient and his three maternal siblings. The patient underwent maintenance hemodialysis (HD), followed by two failed living-related kidney transplants, and died in his sleep a year after the second transplant, hours after a routine dialysis session. Multiple deaths from AS within a family can contribute to grand multiparity, particularly in low-income settings.

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来源期刊
Ethiopian Journal of Health Sciences
Ethiopian Journal of Health Sciences HEALTH CARE SCIENCES & SERVICES-
CiteScore
2.10
自引率
8.30%
发文量
137
审稿时长
12 weeks
期刊介绍: Ethiopian Journal of Health Sciences is a general health science journal addressing clinical medicine, public health and biomedical sciences. Rarely, it covers veterinary medicine
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