PDF(Pubmed)
Abstract：
UNASSIGNED: Patients with Alport syndrome develop progressive kidney function deterioration, sensorineural hearing loss, and ocular abnormalities. This condition is caused by mutations in COL4A5 (X-linked inheritance), COL4A3 and COL4A4 (autosomal dominant or recessive inheritance), and encoding type IV collagen α3, α4, and α5, respectively. If left untreated, clinical symptoms progress from microscopic hematuria to proteinuria, progressive kidney failure, and end-stage kidney disease. At present, kidney transplantation is the only effective approach. Next-generation sequencing is the method of choice for the diagnosis of this condition.
UNASSIGNED: We report the case of a young man with chronic kidney disease who eventually underwent transplantation. Molecular testing made it possible to determine the etiology of his clinical symptoms and autosomal recessive Alport syndrome type 2. The patient was found to be a compound heterozygote for two missense variants (trans configuration) in the COL4A3 gene: A likely pathogenic variant c.4981C>T (p.Arg1661Cys) in exon 52 inherited from the mother (described elsewhere), and another variant of uncertain significance, c.943G>A (p.Gly315Ser), in exon 17 inherited from the father that has not been previously reported in the literature or found in relevant databases.
UNASSIGNED: Following genetic confirmation, genetic counseling was provided to the patient and his direct relatives.
UNASSIGNED: We report the case of a young man with chronic kidney disease who eventually underwent transplantation. Molecular testing made it possible to determine the etiology of his clinical symptoms and autosomal recessive Alport syndrome type 2. The patient was found to be a compound heterozygote for two missense variants (trans configuration) in the COL4A3 gene: A likely pathogenic variant c.4981C>T (p.Arg1661Cys) in exon 52 inherited from the mother (described elsewhere), and another variant of uncertain significance, c.943G>A (p.Gly315Ser), in exon 17 inherited from the father that has not been previously reported in the literature or found in relevant databases.
UNASSIGNED: Following genetic confirmation, genetic counseling was provided to the patient and his direct relatives.
摘要：
■Alport综合征患者出现进行性肾功能恶化，感觉神经性听力损失,和眼部异常。这种情况是由COL4A5（X连锁遗传）中的突变引起的，COL4A3和COL4A4（常染色体显性或隐性遗传），并分别编码IV型胶原蛋白α3，α4和α5。如果不及时治疗，临床症状从镜下血尿进展为蛋白尿，进行性肾衰竭,和终末期肾病.目前,肾移植是唯一有效的方法。下一代测序是诊断这种疾病的首选方法。
■我们报道了一个患有慢性肾病的年轻人最终接受移植的病例。分子检测使确定其临床症状和常染色体隐性遗传Alport综合征2型的病因成为可能。发现该患者是COL4A3基因中两个错义变体（反式构型）的复合杂合子：可能的致病性变体c.4981C>T（p。Arg1661Cys）在从母亲继承的外显子52中（在其他地方描述），和另一个不确定意义的变体，c.943G>A（p。Gly315Ser)，在从父亲那里继承的外显子17中，以前没有文献报道或在相关数据库中找到。
■遗传确认后，向患者及其直系亲属提供遗传咨询.
■我们报道了一个患有慢性肾病的年轻人最终接受移植的病例。分子检测使确定其临床症状和常染色体隐性遗传Alport综合征2型的病因成为可能。发现该患者是COL4A3基因中两个错义变体（反式构型）的复合杂合子：可能的致病性变体c.4981C>T（p。Arg1661Cys）在从母亲继承的外显子52中（在其他地方描述），和另一个不确定意义的变体，c.943G>A（p。Gly315Ser)，在从父亲那里继承的外显子17中，以前没有文献报道或在相关数据库中找到。
■遗传确认后，向患者及其直系亲属提供遗传咨询.
