• Ji-Yu Chen, Jing-Jing Cui, Xi-Ran Yang, Yan-Fang Li, Yan-Hua Zhang, Jia-Ni Chen, Jun-Yu Lin, and Bo Zhao.
• Department of Nephrology & Rheumatology, Kunming Children's Hospital, Kunming, Yunnan, China.
• Medicine (Baltimore). 2021 Nov 24; 100 (47): e27890e27890.

RationaleAlport syndrome (AS) is an inherited progressive renal failure, characterized by kidney disease, hearing loss, and eye abnormalities.Patient ConcernsA 7-year-old male child was admitted for persistent microscopic hematuria and proteinuria.DiagnosesCombined with clinical manifestations, laboratory testing, pathological changes of kidney and sequencing results, the patient was diagnosed as AS.InterventionsThe patient was treated with ACEI and tacrolimus drugs for 2 years, but continued to have hematuria and proteinuria. Thus, a genetic analysis was performed using next-generation sequencing in four affected members from the family.OutcomesThe findings revealed triple compound heterozygous mutation of COL4A4: three novel variations, c.1045C>T (p. R349X), c.3505+1G>A (splicing), and c.2165G>A (p. G722D).LessonsThis study was novel in finding that a triple variant of the COL4A4 gene simultaneously in trans and in cis. The effects of multiple mutation sites and the type of gene mutation in AS were also underlined.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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