A Novel Mutation of UMOD in a Chinese Family with IgA Nephropathy: A Case Report
IgA nephropathy (IgAN) is the most prevalent primary glomerulonephritis worldwide, with varying clinical presentations. The hereditary susceptibility to IgAN is rather complex. In this report, a Chinese case of IgAN was recruited. Renal biopsy showed the tubular atrophy and dilatation, but the glome...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2023-08-01
|
| Series: | Case Reports in Nephrology and Dialysis |
| Subjects: | |
| Online Access: | https://beta.karger.com/Article/FullText/531891 |
| _version_ | 1797690709981003776 |
|---|---|
| author | Furong Li Huan Zou Li Liu Tangli Xiao Bo Zhang Jun Zhang |
| author_facet | Furong Li Huan Zou Li Liu Tangli Xiao Bo Zhang Jun Zhang |
| author_sort | Furong Li |
| collection | DOAJ |
| description | IgA nephropathy (IgAN) is the most prevalent primary glomerulonephritis worldwide, with varying clinical presentations. The hereditary susceptibility to IgAN is rather complex. In this report, a Chinese case of IgAN was recruited. Renal biopsy showed the tubular atrophy and dilatation, but the glomerular lesions were rather weak except slight mesangial hyperplasia. Immunological staining of kidney tissue revealed the positive immunological staining of IgA and C3. By using whole-exome sequencing, a heterozygous variant in UMOD gene was found and was confirmed by Sanger sequencing. The variant in UMOD gene might contribute to the disease and this case helps understand the correlation of genotype and phenotypes of UMOD mutations. |
| first_indexed | 2024-03-12T02:03:03Z |
| format | Article |
| id | doaj.art-4280eccb6d2a45fb9a45a763e4a4f851 |
| institution | Directory Open Access Journal |
| issn | 2296-9705 |
| language | English |
| last_indexed | 2024-03-12T02:03:03Z |
| publishDate | 2023-08-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Nephrology and Dialysis |
| spelling | doaj.art-4280eccb6d2a45fb9a45a763e4a4f8512023-09-07T07:56:39ZengKarger PublishersCase Reports in Nephrology and Dialysis2296-97052023-08-0113112913410.1159/000531891531891A Novel Mutation of UMOD in a Chinese Family with IgA Nephropathy: A Case ReportFurong Li0Huan Zou1Li Liu2Tangli Xiao3Bo Zhang4Jun Zhang5Department of Nephrology, The Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, ChinaDepartment of Nephrology, The Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, ChinaDepartment of Nephrology, The Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, ChinaDepartment of Nephrology, The Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, ChinaDepartment of Nephrology, The Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, ChinaDepartment of Nephrology, The Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, ChinaIgA nephropathy (IgAN) is the most prevalent primary glomerulonephritis worldwide, with varying clinical presentations. The hereditary susceptibility to IgAN is rather complex. In this report, a Chinese case of IgAN was recruited. Renal biopsy showed the tubular atrophy and dilatation, but the glomerular lesions were rather weak except slight mesangial hyperplasia. Immunological staining of kidney tissue revealed the positive immunological staining of IgA and C3. By using whole-exome sequencing, a heterozygous variant in UMOD gene was found and was confirmed by Sanger sequencing. The variant in UMOD gene might contribute to the disease and this case helps understand the correlation of genotype and phenotypes of UMOD mutations.https://beta.karger.com/Article/FullText/531891immunoglobulina nephropathytubular dilatationumodwhole-exome sequencingcase report |
| spellingShingle | Furong Li Huan Zou Li Liu Tangli Xiao Bo Zhang Jun Zhang A Novel Mutation of UMOD in a Chinese Family with IgA Nephropathy: A Case Report Case Reports in Nephrology and Dialysis immunoglobulin a nephropathy tubular dilatation umod whole-exome sequencing case report |
| title | A Novel Mutation of UMOD in a Chinese Family with IgA Nephropathy: A Case Report |
| title_full | A Novel Mutation of UMOD in a Chinese Family with IgA Nephropathy: A Case Report |
| title_fullStr | A Novel Mutation of UMOD in a Chinese Family with IgA Nephropathy: A Case Report |
| title_full_unstemmed | A Novel Mutation of UMOD in a Chinese Family with IgA Nephropathy: A Case Report |
| title_short | A Novel Mutation of UMOD in a Chinese Family with IgA Nephropathy: A Case Report |
| title_sort | novel mutation of umod in a chinese family with iga nephropathy a case report |
| topic | immunoglobulin a nephropathy tubular dilatation umod whole-exome sequencing case report |
| url | https://beta.karger.com/Article/FullText/531891 |
| work_keys_str_mv | AT furongli anovelmutationofumodinachinesefamilywithiganephropathyacasereport AT huanzou anovelmutationofumodinachinesefamilywithiganephropathyacasereport AT liliu anovelmutationofumodinachinesefamilywithiganephropathyacasereport AT tanglixiao anovelmutationofumodinachinesefamilywithiganephropathyacasereport AT bozhang anovelmutationofumodinachinesefamilywithiganephropathyacasereport AT junzhang anovelmutationofumodinachinesefamilywithiganephropathyacasereport AT furongli novelmutationofumodinachinesefamilywithiganephropathyacasereport AT huanzou novelmutationofumodinachinesefamilywithiganephropathyacasereport AT liliu novelmutationofumodinachinesefamilywithiganephropathyacasereport AT tanglixiao novelmutationofumodinachinesefamilywithiganephropathyacasereport AT bozhang novelmutationofumodinachinesefamilywithiganephropathyacasereport AT junzhang novelmutationofumodinachinesefamilywithiganephropathyacasereport |