Different Clinical Courses of Nephronophthisis in Dizygotic Twins.
NPHP1 gene mutation
chronic kidney disease
dizygotic twins
nephronophthisis
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
01 Jan 2023
01 Jan 2023
Historique:
pubmed:
9
6
2022
medline:
6
1
2023
entrez:
8
6
2022
Statut:
ppublish
Résumé
Siblings with nephronophthisis occasionally show different clinical courses; however, the reasons for this remain unclear. We herein report cases of nephronophthisis in a pair of dizygotic twins with different clinical courses. The brother developed end-stage kidney disease at 17 years old; however, his sister did not show kidney insufficiency. Kidney biopsies revealed severe tubulointerstitial damage at 14 and 22 years old in the brother and sister, respectively. Both had a homozygous NPHP1 deletion with different heterozygous mutations related to hereditary cystic kidney disease. Since the dizygotic twins were exposed to similar environmental factors, genetic factors may have influenced their clinical course more strongly than environmental factors.
Identifiants
pubmed: 35676033
doi: 10.2169/internalmedicine.8707-21
pmc: PMC9876724
doi:
Substances chimiques
Membrane Proteins
0
Cytoskeletal Proteins
0
Adaptor Proteins, Signal Transducing
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
87-90Références
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