Table 2 Clinical phenotype of patients with CLCN5: p.R648*
From: Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study
Sex (male, female) | 100% male |
0% female (7: 0) | |
clinical characteristics | |
LMWP | 71.4% (5/7) |
Hypercalciuria | 71.4% (5/7) |
Nephrocalcinosis | 85.7% (6/7) |
Asymptomatic NRP | 28.6% (2/7) |
Rickets | 42.9% (3/7) |
UOB | 28.6% (2/7) |
Night blindness | 14.3% (1/7) |
Amino acid urine | 14.3% (1/7) |
Renal failure | 28.6% (2/7) |