Table 1.
Clinical, pathological, and genetic characteristics of patients with nail-patella syndrome (NPS) nephropathy.
| Case | Sex | Age at onset | Diagnosis at onset | Kidney histology | Age at the last follow-up | Age at ESRD | CKD stage | LMX1B variants | Family (Fig. 1) | Case previously reported | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age of kidney biopsy | LM | EM | Unique GBM changes by EM | ||||||||||
| 1 | M | 20 | Hem | 55 | FGO | ND | ND | 56 | 2 | c.169G>T (p.(Glu57Ter)) | |||
| 2 | M | 0 | Hem | ND | ND | ND | 9 | 1 | c.668G>A (p.(Arg223Gln)) | 1 | |||
| 3 | F | 2 | Prot | 3 | MGA | MEA | + | 10 | 1 | c.668G>A (p.(Arg223Gln)) | 1 | ||
| 4 | F | 17 | Prot | ND | ND | ND | 34 | ND | c.668G>A (p.(Arg223Gln)) | 1 | |||
| 5 | M | 7 | Prot | 9(1st).11(2nd) | CF/GS | MEA | + | 49 | 15 | 5 | c.783dupC (p.(Val262ArgfsTer)) | ||
| 6 | M | 9 | Prot | 14 | MGA | MEA/CF | + | 23 | 4 | c.793G>C (p.(Val265Leu)) | Ref. [13] | ||
| 7 | M | 3 | Prot | ND | ND | ND | 21 | 16 | 5 | c.793G>T (p.(Val265Phe)) | 2 | ||
| 8 | F | 3 | Prot | ND | ND | ND | 20 | 3 | c.793G>T (p.(Val265Phe)) | 2 | |||
| 9 | F | 6 | Hem | ND | ND | ND | 49 | 1 | c.793G>T (p.(Val265Phe)) | 2 | |||
| 10 | M | 8 | Prot | ND | ND | ND | 44 | 2 | c.793G>T (p.(Val265Phe)) | 2 | |||
| 11 | F | ND | Hem | ND | ND | ND | 76 | 2 | c.793G>T (p.(Val265Phe)) | 2 | |||
| 12 | F | 3 | Hem/Prot | 10 | MGA | CF | + | 11 | 1 | c.806_811del (p.(Asn269_Gln270del)) | Ref. [13] | ||
| 13 | F | 7 | NS | 7 | FSGS | FT | − | 25 | 4 | c.819+1G>A | Ref. [16] | ||
Hem Hematuria, Prot Proteinuria, LM light microscopy, EM electron microscopy, NS nephrotic syndrome, MME mesangial matrix expansion, MGA minor glomerular abnormality, FSGS focal segmental glomerulosclerosis, FGO focal glomerular obsolescence, ND not determined, GBM glomerular basement membrane, MEA moth-eaten appearance, CF collagen fibrils in GBM, CKD chronic kidney disease, ESRD end-stage renal disease.