Three cases of multicentric carpotarsal osteolysis syndrome: a case series

BMC Medical Genetics

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

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

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

ISSN: 1471-2350