Singh Ravi Kumar, Arora Veronica, Tiwari Vaibhav, Gupta Deepti, Gupta Anurag, Puri Ratna Dua
Institute of Renal Sciences, Sir Ganga Ram Hospital, New Delhi, India.
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
J Pediatr Genet. 2020 Jul 27;10(4):331-334. doi: 10.1055/s-0040-1714363. eCollection 2021 Dec.
Alport's syndrome (AS) is a rare disorder characterized by a triad of deafness, progressive renal dysfunction, and ocular abnormalities. We presented a patient of early onset AS with a novel frameshift pathogenic variant in the and discuss the utility of genetic testing in the family as well as for the transplant recipient. The patient was a 17-year-old adolescent male with end-stage renal disease (ESRD) and hearing loss. In the setting of ESRD, since hearing loss and anterior lenticonus was detected on an ophthalmologic exam, AS was suspected. On genetic testing, a novel hemizygous frameshift variant was identified in the gene (c.1392del (p.Asp464GlufsTer10)), which was also segregated in the family. In this report, we discussed the early severe presentation, typical ocular findings, genotype-phenotype correlation, and implications of genetic testing for renal transplant. We also explored the challenges of genetic testing in developing countries and the potential of pharmacogenomics.
奥尔波特综合征（AS）是一种罕见疾病，其特征为耳聋、进行性肾功能不全和眼部异常三联征。我们报告了一名早发型AS患者，其[基因名称]存在一种新的移码致病性变异，并讨论了基因检测在该家族以及移植受者中的应用。该患者是一名17岁的青少年男性，患有终末期肾病（ESRD）和听力损失。在ESRD的情况下，由于眼科检查发现听力损失和前圆锥形晶状体，怀疑为AS。基因检测发现[基因名称]中存在一种新的半合子移码变异（c.1392del（p.Asp464GlufsTer10）），该变异也在家族中分离。在本报告中，我们讨论了早期严重表现、典型眼部发现、基因型-表型相关性以及基因检测对肾移植的影响。我们还探讨了发展中国家基因检测面临的挑战以及药物基因组学的潜力。
