A Rare De Novo Mutation in the

Humans Male Nephrotic Syndrome / genetics Adolescent Glomerulosclerosis, Focal Segmental / genetics Mutation Carrier Proteins / genetics Nerve Tissue Proteins
TRIM8 gene mutation children dialysis neurological complications steroid-resistant nephrotic syndrome

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
19 Apr 2024
Historique:
received: 20 03 2024
revised: 12 04 2024
accepted: 17 04 2024
medline: 27 4 2024
pubmed: 27 4 2024
entrez: 27 4 2024
Statut: epublish

Résumé

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

Identifiants

DOI: 10.3390/ijms25084486 PMID: 38674071
pubmed: 38674071
pii: ijms25084486
doi: 10.3390/ijms25084486
pii:
doi:

Substances chimiques

TRIM8 protein, human 0
Carrier Proteins 0
Nerve Tissue Proteins 0

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Marta Badeńska (M)

Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland.

Małgorzata Pac (M)

Department of Immunology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
ORCID: 0000-0003-2071-3297

Andrzej Badeński (A)

Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland.
ORCID: 0000-0001-6947-005X

Karolina Rutkowska (K)

Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
ORCID: 0000-0001-6688-2593

Justyna Czubilińska-Łada (J)

Department of Neonatal Intensive Care and Neonatal Pathology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland.
ORCID: 0000-0003-2842-3307

Rafał Płoski (R)

Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
ORCID: 0000-0001-6286-5526

Nadezda Bohynikova (N)

Department of Immunology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.

Maria Szczepańska (M)

Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland.
ORCID: 0000-0002-6772-1983

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A Rare De Novo Mutation in the
questionsmedicales.fr › Maladies urogénitales › Maladies urologiques › Maladies du rein › Néphrose › Syndrome néphrotique › A Rare De Novo Mutation in the
questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › A Rare De Novo Mutation in the
questionsmedicales.fr › Maladies urogénitales › Maladies urologiques › Maladies du rein › Néphrite › Glomérulonéphrite › Glomérulonéphrite segmentaire et focale › A Rare De Novo Mutation in the
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A Rare De Novo Mutation in the
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de transport › A Rare De Novo Mutation in the
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › A Rare De Novo Mutation in the