Table 2.
Clinical features, renal parameters and biopsy results of patients with lipodystrophy.
| Patient | Current Age/Gender | Type of lipodystrophy | Clinical features | Age, HbA1c and leptin levels, and renal parameters at the time of biopsy | Biopsy results |
|---|---|---|---|---|---|
| 1 | 30/F | CGL homozygous AGPAT2 c.144C>A (p.C48*) |
Diabetes, hypertension, diabetic retinopathy, severe hypertriglyceridemia, recurrent acute pancreatitis episodes, proteinuria, decreased eGFR | Age: 28, HbA1c: 11.2% Leptin: 0.16 ng/ml Urine protein:2.73 g/24 h Serum albumin: 3.5 g/L eGFR: 38 ml/min/1.73 m2 Serum creatinine: 1.8 mg/dL Serum C3: 128 mg/dL |
Mesangial expansion ++ and hypercellularity ++, thickening of GBMs +++, IF/TA +, podocyte foot process effacement +++, arterial hyalinosis +++, ischemic changes +++ (wrinkled GBMs and glomerular shrinkage), FSGS (LM/EM), lipid vacuoles (EM), EM and IM negative for any deposit. |
| 2 | 22/F | CGL homozygous AGPAT2 c.144C>A (p.C48*) |
Diabetes, hypertension, severe hypertriglyceridemia, recurrent acute pancreatitis episodes, nephrotic range proteinuria, hyperfiltration | Age: 21, HbA1c: 10.4% Leptin: 0.1 ng/ml Urine protein:15.2 g/24 h Serum albumin: 3.7 g/L eGFR: 152 ml/min/1.73 m2 Serum creatinine: 0.37 mg/dL Serum C3: 177 mg/dL |
Mesangial expansion ++, thickening of GBMs +, IF/TA +, podocyte foot process effacement ++, arteriolar hyalinosis ++, diffuse mesangial sclerosis, FSGS (LM/EM), EM and IM negative for any deposit. |
| 3 | 30/F | CGL homozygous AGPAT2 c.662-2A>C (IVS5-2A>C) |
Diabetes, hypertension, diabetic retinopathy, severe hypertriglyceridemia, nephrotic range proteinuria, decreased eGFR | Age: 19, HbA1c: 9.1% Leptin: 0.85 ng/ml Urine protein:10.28 g/24 h Serum albumin: 3.8 g/L eGFR: 20 ml/min/1.73 m2 Serum creatinine: 3.2 mg/dL Serum C3: 148 mg/dL |
Mesangial expansion +, irregular thickening of GBMs +, IF/TA +, arteriolar hyalinosis +++, diffuse mesangial sclerosis, ischemic changes +++ (marked thickening and hyalinization of the vessel walls, narrowing of the vessel lumens, periglomerular fibrosis, wrinkled GBMs and glomerular shrinkage). |
| 4 | 12/M | AGL | Severe hypertriglyceridemia, recurrent acute pancreatitis episodes, proteinuria, hyperfiltration | Age: 7, HbA1c: 5.4% Leptin: 0.85 ng/ml Urine protein: 2.27 g/24 h Serum albumin: 3.2 g/L eGFR: 154 ml/min/1.73 m2 Serum creatinine: 0.3 mg/dL Serum C3: 93 mg/dL |
Mesangial expansion and hypercellularity +, thickening of GBMs ++, IF/TA +, focal loss of podocyte foot processes, diffuse mesangial sclerosis, small areas of FSGS (LM/EM), lipid vacuoles (EM), EM and IM negative for any deposit. |
| 5 | 35/F | FPLD heterozygous LMNA c.1444C>T (p.R482W) |
Diabetes, hypertension, diabetic retinopathy, severe hypertriglyceridemia, nephrotic range proteinuria, decreased eGFR | Age: 35, HbA1c: 11% Leptin: 3.04 ng/ml Urine protein: 3.63 g/24 h Serum albumin: 3.7 g/L eGFR: 57 ml/min/1.73 m2 Serum creatinine: 1.22 mg/dL Serum C3: 174 mg/dL |
Mesangial expansion +++, Kimmelstiel- Wilson nodules, thickening of GBMs +, IF/TA ++, diffuse mesangial sclerosis, arteriolar hyalinosis ++, periglomerular fibrosis, podocyte foot process effacement +, collapsing areas (EM), small areas of FSGS (LM), EM and IM negative for any deposit. |
| 6 | 24/F | FPLD heterozygous PPARG c.452A>G (p.Y151C) |
Diabetes, hypertension, severe hypertriglyceridemia, nephrotic range proteinuria | Age: 24, HbA1c: 6.5% Leptin: 8.54 ng/ml Urine protein: 6.28 g/24 h Serum albumin: 3.7 g/L eGFR: 117 ml/min/1.73 m2 Serum creatinine: 0.72 mg/dL Serum C3: 178 mg/dL |
Mesangial expansion ++ and hypercellularity +, thickening of GBMs +, IF/TA ++, podocyte foot process effacement +, small areas of FSGS (LM), focal collapsing areas (EM), IM positive for IgA deposits. |
| 7 | 34/F | FPLD Mutation negative | Diabetes, hypertriglyceridemia, proteinuria | Age: 34, HbA1c: 6.7% Leptin: 1.25 ng/ml Urine protein: 491 mg/24 h Serum albumin: 4.1 g/L eGFR: 122 ml/min/1.73 m2 Serum creatinine: 0.55 mg/dL Serum C3: 126 mg/dL |
Irregular thickening of GBMs +, IF/TA +, podocyte foot process effacement ++, arteriolar hyalinosis +, ischemic changes ++ (wrinkling of the GBMs), small areas of FSGS (LM/EM), EM and IM negative for any deposit. |
| 8 | 50/F | FPLD Mutation negative | Diabetes, hypertriglyceridemia, proteinuria | Age: 50, HbA1c: 9.5% Leptin: 3.35 ng/ml Urine protein:329 mg/24 h Serum albumin: 4.2 g/L eGFR: 103 ml/min/1.73 m2 Serum creatinine: 0.66 mg/dL Serum C3: 132 mg/dL |
IF/TA +, podocyte foot process effacement ++, ischemic changes +++ (marked thickening and hyalinization of the vessel walls, periglomerular fibrosis, wrinkled GBMs and glomerular shrinkage), small areas of FSGS (LM/EM). EM and IM negative for any deposit. |
| 9 | 33/F | APL | Diabetes, severe hypertriglyceridemia, recurrent pancreatitis episodes, low complement C3 levels | Age: 33, HbA1c: 10.6% Leptin: 1.23 ng/ml Urine protein: 330 mg/24 h Serum albumin: 4.6 g/L eGFR: 129 ml/min/1.73 m2 Serum creatinine: 0.48 mg/dL Serum C3: 20 mg/dL |
Mesangial expansion + and hypercellularity +, thickening of GBMs +, podocyte foot process effacement +, arteriolar hyalinosis +, collapsed glomeruli (EM), lipid vacuoles (EM), EM and IM negative for any deposit. |
AGL: Acquired generalized lipodystrophy, AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2, APL: Acquired partial lipodystrophy, CGL: Congenital generalized lipodystrophy, C3: Complement-3, eGFR: Estimated glomerular filtration rate, EM: electron microscopy, FPLD: Familial partial lipodystrophy, FSGS: Focal segmental glomerulosclerosis, GBMs: Glomerular basal membranes, IF/TA: Interstitial fibrosis/tubular atrophy, IM: Immunofluorescence microscopy, LM: light microscopy, LMNA: Lamin A/C, M: Male, PPARG: Peroxisome proliferator-activated receptor gamma.