Article ; Online: A Rare De Novo Mutation in the
International journal of molecular sciences
2024 Volume 25, Issue 8
Abstract: Idiopathic nephrotic syndrome is the most common chronic glomerular disease in children. Treatment with steroids is usually successful; however, in a small percentage of patients, steroid resistance is observed. The most frequent histologic kidney ... ...
Abstract | Idiopathic nephrotic syndrome is the most common chronic glomerular disease in children. Treatment with steroids is usually successful; however, in a small percentage of patients, steroid resistance is observed. The most frequent histologic kidney feature of steroid-resistant nephrotic syndrome (SRNS) is focal segmental glomerulosclerosis (FSGS). Genetic testing has become a valuable diagnostic tool in defining the etiology of SRNS, leading to the identification of a genetic cause. The |
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MeSH term(s) | Humans ; Male ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/drug therapy ; Nephrotic Syndrome/congenital ; Adolescent ; Glomerulosclerosis, Focal Segmental/genetics ; Glomerulosclerosis, Focal Segmental/drug therapy ; Mutation ; Carrier Proteins/genetics ; Nerve Tissue Proteins |
Chemical Substances | TRIM8 protein, human ; Carrier Proteins ; Nerve Tissue Proteins |
Language | English |
Publishing date | 2024-04-19 |
Publishing country | Switzerland |
Document type | Case Reports |
ZDB-ID | 2019364-6 |
ISSN | 1422-0067 ; 1422-0067 ; 1661-6596 |
ISSN (online) | 1422-0067 |
ISSN | 1422-0067 ; 1661-6596 |
DOI | 10.3390/ijms25084486 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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