Medicine · 2021
A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome: A care case report.
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Chen Ji-Yu, Cui Jing-Jing, Yang Xi-Ran, Li Yan-Fang, Zhang Yan-Hua, Chen Jia-Ni, Lin Jun-Yu, Zhao Bo
Аннотация
RATIONALE: Alport syndrome (AS) is an inherited progressive renal failure, characterized by kidney disease, hearing loss, and eye abnormalities.
PATIENT CONCERNS: A 7-year-old male child was admitted for persistent microscopic hematuria and proteinuria.
DIAGNOSES: Combined with clinical manifestations, laboratory testing, pathological changes of kidney and sequencing results, the patient was diagnosed as AS.
INTERVENTIONS: The 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.
OUTCOMES: The 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).
LESSONS: This 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.
PATIENT CONCERNS: A 7-year-old male child was admitted for persistent microscopic hematuria and proteinuria.
DIAGNOSES: Combined with clinical manifestations, laboratory testing, pathological changes of kidney and sequencing results, the patient was diagnosed as AS.
INTERVENTIONS: The 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.
OUTCOMES: The 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).
LESSONS: This 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.