亚甲基四氢叶酸还原酶(MTHFR) (C677T)突变致同型半胱氨酸尿患儿阴茎勃起症

Ameer Kakaje, Ammar Fadel, Osama Hosam Aldeen, Othman Hamdan
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引用次数: 0

摘要

阴茎勃起是一种长时间的不自主勃起,如果不及时治疗,可能会产生严重的并发症。缺血性阴茎勃起是非常罕见的儿童,需要紧急干预,以防止永久性勃起功能障碍和阴茎缩短。它可由镰状细胞性贫血、白血病、创伤、药物或自发性贫血引起。同型半胱氨酸尿是一种罕见的常染色体隐性遗传病,可引起高同型半胱氨酸血症和高凝性。很少有报告表明,高同型半胱氨酸血症可引起阴茎勃起障碍,而且是在成人中。然而,据我们所知,我们报告了首例这样的病例:一个只有MTHFR (C677T)突变导致同型半胱氨酸尿的青春期前儿童,并患有缺血性阴茎勃起。一名9岁的叙利亚阿拉伯男孩出现了持续几个小时的阴茎勃起。血液检查显示血球计数、膜和血红蛋白电泳正常。然而,凝血酶原时间、部分凝血活酶时间、同型半胱氨酸水平和c反应蛋白升高。其他凝血检查均在正常范围内。多普勒超声检查发现海绵体血流减少,提示海绵体温盐水灌洗,成功治疗了阴茎勃起。后来证实纯合子MTHFR (C677T)突变的基因检测,并指示使用华法林。总之,同型半胱氨酸尿在阴茎勃起症中是非常罕见的,这是第一例在儿童中报告这种现象。在低收入国家,超声检查是一种必不可少的工具,有助于识别各种医疗状况,如阴茎勃起,并可通过温盐水吸吸成功处理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Priapism in a Child from Homocystinuria from Methylenetetrahydrofolate Reductase MTHFR (C677T) Mutation.

Priapism in a Child from Homocystinuria from Methylenetetrahydrofolate Reductase MTHFR (C677T) Mutation.

Priapism in a Child from Homocystinuria from Methylenetetrahydrofolate Reductase MTHFR (C677T) Mutation.

Priapism is a prolonged involuntary erection that can have severe complications if left untreated. Ischaemic priapism is very rare in children and requires urgent intervention to prevent permanent erectile dysfunction and penile shortening. It can be caused by ischaemia in sickle cell anaemia, leukaemia, trauma, drugs, or idiopathy. Homocystinuria is a rare autosomal recessive disorder that can cause hyperhomocysteinemia and hypercoagulability. Very few reports suggested that priapism can be caused by hyperhomocysteinemia, and they were in adults. However, we present the first of such a case to the best of our knowledge of a prepubescent child who only had the MTHFR (C677T) mutation that causes homocystinuria and had ischaemic priapism. A nine-year-old Syrian Arab boy was presented with priapism that lasted for a few hours. Blood tests show normal blood count, film, and haemoglobin electrophoresis. However, prothrombin time, partial thromboplastin time, homocysteine level, and C-reactive protein were elevated. Other coagulation tests were within the normal range. Doppler ultrasonography found decreased cavernous blood flow, and warm 0.9% saline lavage of the cavernosa was indicated and successfully treated the priapism. Genetic testing for the homozygous MTHFR (C677T) mutation was later confirmed, and warfarin was indicated. In conclusion, homocystinuria is very rare in priapism, and this is the first case to report this phenomenon in a child. Ultrasonography in low-income countries is an essential tool that helps identify a wide variety of medical conditions such as priapism and can be successfully managed by aspiration with warm saline.

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