Table 1.
Cohort characteristics of 32 patients with NL and (or) NC in our center
| Variants mutation | Family history | Consanguinity | CKDa | Confirmed clinical diagnosis | Confirmed molecular diagnosis | Unconfirmed diagnosis | ||
|---|---|---|---|---|---|---|---|---|
| Positive | Negative | |||||||
| NL | 9 (69.2%) | 4 (30.7%) | 3 | 0 | 1 | 1 | 9 | 4 |
| NC | 11 (84.6%) | 2 (15.4%) | 4 | 1 | 2 | 6 | 11 | 2 |
| NL + NC | 5 (83.3%) | 1 (17.6%) | 1 | 0 | 1 | 1 | 5 | 1 |
| Total | 25 (78.1%) | 7 (21.9%) | 7 | 1 | 4 | 8 (25%) | 25 (78.1%) | 7 (21.9%) |
CKD chronic kidney disease, AR autosomal recessive inheritance, CNV chromosome copy number variation
aNote that, CKD is an uncommon complication, one patient progressed to CKD in the presence of NL, with an unconfirmed diagnosis. Two patients progressed to CKD in the presence of NC. One patient progressed to CKD in the presence of NL merged with NC. These patients have confirmed molecular diagnosis