Table 3.
Kidney histology as a function of underlying genetic defect
| Histology | Mutated Gene |
No mutation(n = 14) | ||
|---|---|---|---|---|
| NPHS1 (n = 39)a,b | NPHS2 (n = 15)a | Other (n = 4)c | ||
| CNF | ||||
| suggestive of CNFd | 4 | 0 | 1 | 2 |
| compatible with CNFe | 28 | 2 | 0 | 4 |
| Minimal glomerular changes | 2 | 6 | 0 | 3 |
| FSGS | 2 | 5 | 0 | 2 |
| DMS | 0 | 0 | 4 | 1 |
| Otherf | 3 | 2 | 0 | 2 |
aOnly patients with two mutated alleles were considered for genotype–phenotype associations.
bIn addition to patients with two pathogenic NPHS1 mutations, one patient bearing one NPHS1 mutation and one single-nucleotide polymorphism in the compound heterozygous state displayed histologic changes consistent with CNF.
cIncludes patients with mutations in WT1, LAMB2, and PLCE1 and inherited mitochondrial disorders.
dBiopsies showing any of the following features: Mesangial hypercellularity, mesangial matrix expansion, or mesangial sclerosis.
eBiopsies showing microcystic tubular dilatation and any of the features described ind.
fIncludes unclassified glomerular changes, mesangioproliferative glomerulonephritis, and collagen type III glomerulopathy.