INF2 p.Arg214Cys mutation in a Chinese family with rapidly progressive renal failure and follow-up of renal transplantation: case report and literature review
| Autor: | Xinxin Ma, Wenbo Zhao, Dan Luo, Xiaohao Zhang, Jun Zhang, Hui Peng, Ming Li, Zengchun Ye |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Nephrology Male medicine.medical_specialty Time Factors medicine.medical_treatment 030232 urology & nephrology Formins Case Report lcsh:RC870-923 urologic and male genital diseases Gastroenterology End stage renal disease 03 medical and health sciences End-stage renal disease Young Adult 0302 clinical medicine Asian People Internal medicine medicine Humans Family history Kidney transplant business.industry Glomerulosclerosis Focal Segmental Secondary Focal Segmental Glomerulosclerosis lcsh:Diseases of the genitourinary system. Urology Kidney Transplantation INF2 Transplantation 030104 developmental biology Mutation analysis Mutation (genetic algorithm) Mutation Disease Progression Kidney Failure Chronic Hemodialysis business Follow-Up Studies |
| Zdroj: | BMC Nephrology BMC Nephrology, Vol 22, Iss 1, Pp 1-6 (2021) |
| ISSN: | 1471-2369 |
| Popis: | Background Heterozygous mutations in the inverted formin 2 (INF2) gene are related to secondary focal segmental glomerulosclerosis (FSGS), a rare secondary disease associated with rapidly progressive renal failure. Case presentation We report a patient with familial autosomal INF2 mutation manifesting nephritic syndromes and elevated serum creatinine levels. Mutational analysis revealed an autosomal dominant (AD) inheritance pattern and a mutation in exon 4 (p.Arg214Cys) of INF2 as the likely cause, which has not been previously described in an Asian family. The patient progressed to end-stage renal disease (ESRD) and received hemodialysis. His mother had undergone renal transplant 3 years earlier, and his grandmother had carried the p.Arg214Cys mutation for more than 80 years without any sign of renal dysfunction. Conclusions This is the first report to identify an association between a familial autosomal dominant INF2 p.Arg214Cys mutation and rapidly progressive renal disease in an Asian family. INF2 mutation analysis should not be restricted to individuals without family history of FSGS, rather it should also be performed on individuals for whom drug-based therapies are not effective. In this case, kidney transplant is an effective alternative. |
| Databáze: | OpenAIRE |
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