Table 1 Patients’ Baseline Demographics and key Clinical characteristics
Family | Patient | Sex | Age (years) | Consanguinity | Family History | Age of onset | Clinical and radiological presentation | Creat plas (μmol/l) Clearance (ml/mn/1,73m2) | Crystalluria | Oxaluria (μmol/24 h) | Vit B6 stable dose for at least 3 months | Progression to ESRD | Age of ESRD |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Family F1 | P 1 | M | 41 | Yes | Yes | 4 years | Recurrent urolithiasis | 8609 | No | Yes | 41 years | ||
P 2 | M | 6 | No | Yes | <1 year | Recurrent urinary tract infections, urolithiasis and Nephrocalcinosis | Creat: 28 Cl: 117 | CaOx monohydrate crystals (type Ic whewellite). (500/mm3) | 724.5 | Yes (20 mg/24 h) | No | – | |
P 3 | M | 4 | No | Yes | <1 year | Recurrent urinary tract infections, urolithiasis and Nephrocalcinosis | Creat: 43 Cl: 73 | CaOx monohydrate crystals (type Ic whewellite) (200/mm3). | 599 | Yes (20 mg/24 h) | No | – | |
Family F2 | P 4 | M | 35 | No | Yes (his sister was operated for renal lithiasis) | 23 years | Recurrent urolithiasis and Nephrocalcinosis, operated for renal bilateral renal lithiasis for 5 times at ages 23, 24 and 25 years. | Creat: 236 (2012) | CaOx monohydrate crystals (type Ic whewellite). (250/mm3) | 623 | No | No | – |