Is C1q Nephropathy Associated with a WDR19 Gene Mutation? A Case Report

Overview

Journal Hippokratia

Specialty General Medicine

Date 2022 Aug 8

PMID 35937515

Authors

K Kaynar

B Guvercin

O Guler

S Mungan

E Caglayan

Affiliations

Soon will be listed here.

Abstract

Background: Even though complement 1q nephropathy (C1qN) was first introduced in 1985, this entity is still unknown and recognized by clinicians due to its rare prevalence (0.2 - 2.5 %) and insufficient emphasis.

Description Of The Case: A 50-year-old woman was incidentally found to have non-nephrotic proteinuria with a normal glomerular filtration rate. Renal biopsy revealed C1qN with severe fibrosis. The presence of consanguinity and kidney diseases in family members of the patient led to genetic research, and homogenous mutation of c.991G>T (p.G331C) in the WD-repeat domain 19 ( gene was found. The same homozygous and heterozygous mutations in the gene were found in the relatives of our patient with kidney diseases. One year of follow-up with methylprednisolone and mycophenolate mofetil treatment resulted in partial remission of the kidney disease.

Conclusion: Renal biopsy for patients with non-nephrotic proteinuria without delay is suggested as it might be a surrogate marker of severe injury. Genetic mutations in the gene should be searched for C1qN pathogenesis. This is the first adult case report on C1qN from Turkey.HIPPOKRATIA 2021, 25 (2):87-90.

Citing Articles

Compound heterozygous variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.

Tang X, Yi S, Qin Z, Yi S, Chen J, Yang Q Heliyon. 2024; 10(1):e23257.

PMID: 38163131 PMC: 10754840. DOI: 10.1016/j.heliyon.2023.e23257.

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