Table 1 Clinical data of patients 1 and 2
Clinical features | Patient 1 | Patient 2 |
|---|---|---|
Sex | Male | Female |
Age at death | 8 months | 7 months |
Origin | Spanish | Pakistani |
Neonatal profile (at birth) | ||
Gestational period (weeks) | 39.4 | 40.3 |
Weight (g) | 3400 (58th percentile) | 2940 (17th percentile) |
Height (cm) | 51 (70th percentile) | 49 (30th percentile) |
Head circumference (cm) | 34 (28th percentile) | 32 (3rd percentile) |
Renal phenotype | ||
Onset of NS (days) | 45 | 75 |
Renal biopsy | DMS, tubular atrophy, primitive glomeruli | Increased glomerular mesangial matrix |
Renal ultrasound | Poor corticomedullary differentiation | Cortical hyperechogenicity |
Hyperkalemia | Yes | No |
Hypomagnesemia | Yes | No |
Neurological involvement | ||
Brain MRI | Microcephaly, brain atrophy, poor myelination | Microcephaly, brain atrophy |
Developmental delay | Yes | Yes |
Axial hypotonia | Yes | Yes |
Skeletal abnormalities | No | Arachnodactyly |
Dysmorphic features | No | Yes (wide nasal bridge, retrognathia, low set ears) |
Others | Dry right eye Gastroesophageal reflux | Epileptiform activity Seizures |