Table 1 Phenotypic characteristics of 33-34insC mutation carriers
Family | N° patient | Circumstance of recruitment | Consanguinity | Circumstance of the diseases discovery | Renal echography | Oxaluria mmol/24H | Oxaluria/creatininuria mmol/mmol | Extra- renal alteration | Evolution (age) |
|---|---|---|---|---|---|---|---|---|---|
Pediatric cases | |||||||||
Median Age of First symptoms: 2.5 years (range 6 months to 4 years) | |||||||||
Median Age at diagnosis: 3 years (range 6 months to 12 years) | |||||||||
F1 | 1* | IC | 3° | Anemia/RI | nephrocal | 0.4 | 0.67 | (−) | D (7 months) |
F2 | 2 | IC | 1° | RI | lith + nephrocal | 0.16 | 0,43 | DG | D (4 yrs) |
F3 | 3 | IC | 2° | RI | lith | 0.57 | 0.026 | OC | HD (7 yrs) |
4 (sister) | FS | 2° | RI | lith | ND | ND | (−) | D (2 yrs) | |
5 (sister) | FS | 2° | RI | lith | ND | ND | (−) | D (3 yrs) | |
6 (sister) | FS | 2° | RI | lith | ND | ND | (−) | D (1 yrs) | |
F4 | 7 | IC | 2° | CN/AP | lith | 0.73 | ND | (−) | HD (5 yrs) |
Adult cases | |||||||||
Median Age of First symptoms: 46.5 years (range 7 to 70 years) | |||||||||
Median Age at diagnosis: 47.75 years (range 36 to 73 years) | |||||||||
F5 | 8 | IC | 0° | CN/RI | lith | ND | ND | HT | HD (61 yrs) |
F6 | 9 | IC | 1° | CN/RI | lith | ND | ND | OC | HD (49 yrs) |
10 (father) | FS | 1° | lith | lith | ND | ND | (−) | HD (73 yrs) | |
F7 | 11 | IC | 1° | CN/RI | lith | 0.73 | ND | (−) | HD (48 yrs) |
12 (niece) | FS | 1° | lith | lith | ND | ND | (−) | D (12 yrs) | |
F8 | 13 | IC | 2° | CN | lith | 2.55 | ND | (−) | CRF (43 yrs) |
14 (brother) | FS | 2° | lith | lith | Nl | ND | (−) | Nl | |
F9 | 15 | IC | 1° | CN | lith | Nl | ND | (−) | Nl |
16 (brother) | FS | 1° | lith | lith | Nl | ND | (−) | Nl | |