Table 1 The basic situation of children with Dent disease with the same pathogenic variant that has been reported in the literature
From: Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study
Number | Authors | Patient’s country | Year of publication | Gender | Age of onset (years) | Age at diagnosis (years) | Gene mutation site | Amino acid variation | Source of mutation | clinical characteristics | Kidney pathology | other |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | Lloyd et al. | Italy | 1997 | M | / | 3 | CGA→TGA | p.R648X | Family | LMWP, Nephrocalcinosis, Nephrocalcinosis, Kidney failure, Rickets | / | / |
2 | Lloyd et al. | Italy | 1997 | M | / | 0.5 | CGA→TGA | p.R648X | Family | LMWP, Hypercalciuria, Nephrocalcinosis, Kidney failure, Rickets | / | / |
3 | Igarashi et al. | Japan | 1998 | M | / | 14 | CGA→TGA | p.R648X | Mother | LMWP, Nephrocalcinosis, Nephrocalcinosis, UOB | sclerosis | Urinary calcium/creatinine: 6 |
4 | Igarashi et al. | Japan | 1998 | M | / | 6 | CGA→TGA | p.R648X | Mother | LMWP, Nephrocalcinosis, Nephrocalcinosis, UOB | Glomerulosclerosis | Urinary calcium/creatinine: 17 |
5 | Frishberg et al. | Israel | 2009 | M | 7 | 9 | / | p.R648X | Mother | Asymptomatic NRP, Mild nephrocalcinosis | FSGS and (or) Global glomerulosclerosis, Mild mesangial hyperplasia | Prenatal ultrasound shows bilateral hydronephrosis |
6 | Frishberg et al. | Israel | 2009 | M | 11 | 11 | / | p. R648X | Mother | Asymptomatic NRP, Mild nephrocalcinosis | FSGS and (or) Global glomerulosclerosis | / |
7 | Bhardwaj et al. | India | 2016 | M | 1 | 14 | c.1942 C > T | p. R648X | / | LMWP, Hypercalciuria, Rickets, Night blindness, Amino acid urine | / | / |