Different Clinical Courses of Nephronophthisis in Dizygotic Twins.
Intern Med
; 62(1): 87-90, 2023 Jan 01.
Article
in En
| MEDLINE
| ID: mdl-35676033
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Kidney Diseases, Cystic
/
Polycystic Kidney Diseases
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Intern Med
Journal subject:
MEDICINA INTERNA
Year:
2023
Document type:
Article
Affiliation country:
Japan