| Title: |
Clinical Heterogeneity in Familial IgA Nephropathy |
| Authors: |
Fennelly, Neil K.; Kennedy, Claire; Jenkinson, Allan C.; Connaughton, Dervla M.; Stapleton, Caragh; Dorman, Anthony M.; Doyle, Brendan; Conlon, Peter J. |
| Source: |
Nephron ; volume 139, issue 1, page 63-69 ; ISSN 1660-8151 2235-3186 |
| Publisher Information: |
S. Karger AG |
| Publication Year: |
2018 |
| Description: |
Background: IgA nephropathy is the most common primary glomerulonephritis worldwide and a significant cause of end-stage renal disease (ESRD). While most cases of IgA nephropathy are considered sporadic, familial cases have been reported. Methods: We performed a national audit of 1,809 patients attending renal clinics and dialysis units to identify a family history among patients with kidney disease. We reviewed all renal biopsies performed at our institution spanning a 30-year period. Paediatric cases were not included. Results: We identified 14 families involving 41 affected individuals with biopsy-proven IgA nephropathy and at least one other member with either biopsy-proven IgA nephropathy or ESRD. Detailed family histories were obtained, medical records reviewed and family pedigrees constructed. Retrospective application of the MESTC criteria to all familial IgA biopsies was performed. Seven families had 2 or more members with biopsy-proven IgA nephropathy, equating to 23 (1.8%) of 1,283 biopsies with IgA nephropathy over the last 30 years. A complex inheritance pattern was observed, with autosomal dominant and autosomal recessive families identified with varying penetrance. There was a male preponderance (68%), and a complex heterogeneity in the clinical and histopathological features of familial IgA patients (age range 16–60 years; creatinine range 60–350 μmol/L). We observed a high rate (66%) of progression to ESRD, with a mean time to progression of 5.13 years (SD 1.8 years; range 2–8 years). Among those patients who had undergone transplantation, recurrence of disease was reported in 5 (50%) cases. Conclusion: These data suggests familial aggregation of IgA nephropathy, confirm the clinical and histopathological heterogeneity and raise the possibility of monogenic inheritance. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1159/000486018 |
| Availability: |
https://doi.org/10.1159/000486018; https://www.karger.com/Article/Pdf/486018 |
| Rights: |
https://www.karger.com/Services/SiteLicenses ; https://www.karger.com/Services/SiteLicenses |
| Accession Number: |
edsbas.F8459615 |
| Database: |
BASE |