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Table 1 Summary of the clinical features of the three patients with multicentric carpotarsal osteolysis syndrome

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
  1. FSGS focal segmental glomerulosclerosis, NOS not-otherwise specified, eGFR estimated glomerular filtration rate calculated using the Schwartz formula