From: Three cases of multicentric carpotarsal osteolysis syndrome: a case series
Patients | Patient 1 | Patient 2 | Patient 3 |
---|---|---|---|
Gender | Male | Female | Male |
Current age | 20 years | 15 years | 4 years |
MAFB mutations | p.Pro71Ala | p.Ser61Arg | p.Pro71Leu |
Bony lesions | |||
Onset age | 2 years | 12 years | 3 months |
Current state | Wheelchair-bound state | Progression of bony lesions | Wearing orthotics |
Nephropathy | |||
Onset age | 4 years | 12 years | 14 months |
Mode of presentation | Proteinuria | Proteinuria | Proteinuria |
Age at kidney biopsy | 4 years | 14 years | Not done |
Pathological diagnosis | FSGS, NOS variant | FSGS, NOS variant | Not done |
Current state | Kidney transplantation at the age of 5 | eGFR 87.6 mL/min/1.73 m2 | Normal renal function with spontaneous remission of proteinuria |