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Arch Iran Med. 2024;27(1): 8-14.
doi: 10.34172/aim.2024.02
PMID: 38431955
PMCID: PMC10915930
  Abstract View: 434
  PDF Download: 345

Original Article

Clinicopathological Features of Hereditary Nephritis in the Iranian Population: Analysis of a 14-Year Survey in Kidney Biopsies From a Large Referral Center

Amir Emami 1 ORCID logo, Fatemeh Nili 1* ORCID logo, Maryam Sotoudeh Anvari 2, Samaneh Salarvand 1, Golnar Seirafi 3

1 Department of Pathology, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
2 Department of Molecular Pathology, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran
3 Tehran University of Medical Sciences, Tehran, Iran
*Corresponding Author: Fatemeh Nili, Email: f-nili@sina.tums.ac.ir, Email: f-nili@sina.tums.ac.ir

Abstract

Background: Hereditary nephritis (HN), including Alport syndrome (AS) and thin basement membrane nephropathy (TBMN), is a rare genetic cause of hematuria. A definitive diagnosis requires electron microscopy (EM). Therefore, the clinical characteristics of these conditions are less known. This study aimed to determine the percentage and clinicopathological features of HN in patients from a referral center in Iran.

Methods: We checked kidney biopsy reports from 2007 to 2021 and extracted cases with HN. Fresh specimens of the cases diagnosed in the last two years were stained by immunofluorescence (IF) for collagen type IV alpha chains. EM findings in these cases were re-evaluated and categorized as diffuse glomerular basement membrane (GBM) thinning, definite, and suspicious features of AS.

Results: We analyzed 3884 pathology reports of kidney biopsies from 2007 to 2021 and identified 210 patients (5.4%) with HN, with a mean age of 13.78±12.42 years old. Hematuria with proteinuria (53.3%), isolated hematuria (44.2%), and proteinuria with hematuria and increased creatinine (2.5%) were found in these patients. The re-evaluation of EM findings revealed GBM thinning, definite, and suspicious findings of AS in 37.5%, 43.8%, and 18.8% cases, respectively. The most common diagnosis in 32 cases after the IF study was X-linked AS (71.9%), and 6.2% of cases were autosomal recessive AS. TBMN and autosomal dominant AS remained the differential diagnoses in 21.9%.

Conclusion: It was found that EM is helpful for the primary diagnosis of patients with definite AS. Immunostaining improves the diagnostic sensitivity for the differentiation of those with suspicious EM findings and determines the inheritance pattern. However, a multidisciplinary approach for a subset of cases is required for the best diagnosis and management.


Cite this article as: Emami A, Nili F, Sotoudeh Anvari M, Salarvand S, Seirafi G. Clinicopathological features of hereditary nephritis in the Iranian population: analysis of a 14-year survey in kidney biopsies from a large referral center. Arch Iran Med. 2024;27(1):8- 14. doi: 10.34172/aim.2024.02
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Abstract View: 435

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Submitted: 08 Aug 2023
Accepted: 08 Nov 2023
ePublished: 01 Jan 2024
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