Table 1 Clinical, metabolic, and genetics characterization of patients with congenital generalized lipodystrophy
Case (initials) Gender/Age Tanner | Subtype Mutation (gene) | Comorbidities, Microvascular complications | Drugs | CAN (yes/no) |
|---|---|---|---|---|
1 (RMTS) ♀, 7 years M2P2 | Type 2 CGL BSCL2 | High HOMA-IR score, ↓HDL-c, ↑TG, nephropathy (moderate albuminuria), ↑BP | MTF | Yes (clinical) |
2 (KEBS) ♀, 7 years M2P2 | Type 1 CGL AGPAT2 | High HOMA-IR score, ↓HDL-c, ↑TG | None | No |
3 (JAGS) ♂, 9 years G1P1 | DNA not available | High HOMA-IR score, ↓HDL-c, ↑TG | None | No |
4 (ACLB) ♀, 10 years M2P2 | Type 2 CGL BSCL2 | DM, high HOMA-IR score, ↓HDL-c,↑TG | MTF, pioglitazone | Yes (incipient) |
5 (LCS) ♂, 10 years G2P1 | Type 2 CGL BSCL2 | DM, ↓HDL-c, ↑TG,↑cholesterol, nephropathy (severe albuminuria) | MTF, pioglitazone, insulin | No |
6 (DRM) ♂, 14 years G4P4 | DNA not available | DM, ↓HDL-c, ↑TG, ↑cholesterol | MTF | No |
7 (PS) ♀, 14 years M4P4 | Type 2 CGL BSCL2 | DM, ↓HDL-c, ↑TG, ↑cholesterol, nephropathy (severe albuminuria), peripheral neuropathy, ↑BP | MTF, acarbose, insulin, ciprofibrate | Yes (clinical) |
8 (PCSF) ♂, 14 years G5P5 | Type 2 CGL BSCL2 | DM, high HOMA-IR score, ↓HDL-c, ↑TG, nephropathy (moderate albuminuria) | MTF | No |
9 (BMS) ♀, 25 years M5P5 | Type 1 CGL AGPAT2 | DM, ↓HDL-c, ↑TG,↑cholesterol, ↑BP, nephropathy (severe albuminuria), peripheral neuropathy | MTF, pioglitazone, insulin, ciprofibrate | Yes (clinical) |
10 (RMAS) ♀, 30 years M5P5 | DNA not available | DM, ↓HDL-c, ↑TG, ↑BP, nephropathy (severe albuminuria) | MTF, insulin, losartan | Yes (clinical) |