Experimental Nephrology and Genetics: Case Study of Genetic Interest

Wang H.a· Li K.b· Xiao R.c· Xu L.a· Zhen J.d· Wang R.a· Sun J.a,c

Author affiliations

aDepartment of Nephrology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China
bDepartment of Central Sterile Supply, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China
cCheeloo College of Medicine, Shandong University, Jinan, China
dDepartment of Pathology, Shandong University, Jinan, China

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Article / Publication Details

First-Page Preview

Received: March 13, 2020
Accepted: May 30, 2022
Published online: July 27, 2022

Number of Print Pages: 6
Number of Figures: 4
Number of Tables: 1

ISSN: 1660-8151 (Print)
eISSN: 2235-3186 (Online)

For additional information: https://www.karger.com/NEF

Abstract

Karyomegalic interstitial nephritis (KIN) is a rare kidney disease marked by large tubular nuclei, interstitial inflammation, tubular atrophy, and interstitial fibrosis. The current study presented the case of a 39-year-old man with deteriorating kidney function and a serum creatinine level of 2.08 mg/dL. The renal biopsy revealed that the main pathological features of renal tubular epithelial cells were obvious enlargement, irregular shape, and hyperchromatic nuclei. The genetic analysis of the patient revealed two heterozygous variants in the FAN1 gene, c.2485c>T, and c.2928dupT, located in exons 10 and 13, respectively. A diagnosis of KIN was rendered. The two variations of the proband are identified in separate alleles from the father and mother, respectively, according to his family’s sequencing. This phenotype is consistent with an autosomal recessive pattern of inheritance. The patient was treated with the Chinese patent medicine Niaoduqing Particles. After 38 months of follow-up, renal function was barely changed with a serum creatinine of 1.73 mg/dL.

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First-Page Preview

Received: March 13, 2020
Accepted: May 30, 2022
Published online: July 27, 2022

Number of Print Pages: 6
Number of Figures: 4
Number of Tables: 1

ISSN: 1660-8151 (Print)
eISSN: 2235-3186 (Online)

For additional information: https://www.karger.com/NEF

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