Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant

Table 1 Laboratory data (Blood. Age 36 years)

Variables	Values	Normal range
Fasting glucose, mmol/l	8.8	3.1–6.1
HbA1c, %	7.3	4–6
C-peptide, ng/ml	0.928	1.1–4.4
Anti-tyrosine phosphatase antibodies, U/ml	0.144	neg. < 8
Anti-islet cell antibodies, U/ml	0.58	neg. < 0.95
Anti-insulin antibodies, U/ml	17	pos. > 10
Zinc transporter 8 antibodies, U/ml	1.436	neg. < 15
Anti-GAD antibodies, U/ml	0.7	neg. < 1
Total cholesterol, mmol/l	5.55	3.3–5.2
HDL cholestrol, mmol/l	0.452	1.15–2.6
LDL cholestrol, mmol/l	1.435	1.1–3
Triglycerides, mmol/l	8.14	0.1–1.7
Leptin, ng/ml	5.382	3.7–11.1
Adiponectin, ng/ml	2.54	8.2–19
Creatinine kinase, U/l	472	29–168
ALT, U/l	42	0–55
AST, U/l	75	5–34
GGT, U / l,	139	9–36
Calcium, mmol/l	2.28	2.15–2.55
Ionized calcium, mmol/l	0.9	1.03–1.29
Vitamin D, ng / ml	27.2	> 30
Creatinine, mcmol/l	69.2	50–98
CKD – EPI, ml/min/1,73 m²	98	90–120
Urea, mmol/l	9.4	2.5–6.7
Uric acid, μmol	444.25	142–339

HbA1c Hemoglobin A1c, GAD Glutamic acid decarboxylase, HDL High-density lipoprotein, LDL Low-density lipoprotein, ALT Alanine aminotransferase, AST Aspartate aminotransferase, GGT Gamma-glutamyl transpeptidase, CKD – EPI Chronic Kidney Disease Epidemiology Collaboration

ISSN: 3059-4057