Table 3 Clinical history and genetic variant of MAFB in 6 patients with Multicentric Carpo-Tarsal Osteolysis Syndrome
Patient | Age (y,m) | Age at onset (y,m) | Age at diagnosis (y,m) | Autonomous deambulation | MAFB gene variant | First evidence of renal disease (months) | Pharmacological therapies | Others |
|---|---|---|---|---|---|---|---|---|
1 | 15.8 | 2.0 | 6.0 | Yes | p.Thr62Ala | 60 | Denosumab from 2015 to 2018, *ACE-I, B-B | Renal biopsy- focal and segmental mesangial IgM deposit |
2 | 19.11 | 1.2 | 1.6 | No | p.Pro63Arg | 48 | Denosumab from 2013 to 2018; ACE-I; NSAID | None |
3 | 12.9 | 8.8 | 9.7 | Yes | p.Ser70Pro | None | None | None |
4 | 18.6 | 7.9 | 10.0 | Yes | p.Thr58Ala | 132 | Methotrexate; Cyclosporine, *ACE-I, B-B | Renal biopsy—interstitial nephropathy with mesangial IgM deposit |
5 | 5.2 | 1.0 | 2.7 | No | p.Pro71Ala | 40 | Denosumab from April 2021 to September 2021, *ACE-I | None |
6 | 16.9 | 1.8 | 3.0 | Yes | p.Thr62Ile | 48 | Denosumab from 2013 to 2018, ACE-I, Sartans, opioids, joint infiltration of hyaluronic acid | Corneal opacities |