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Table 2 Laboratory tests, abdominal ultrasound, and echocardiography of congenital generalized lipodystrophy Patients 1 and 2

From: Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications

Patient12
Age (years old)15*30**1*12.2**
Leptin (ng/mL)*1.01.0
Total cholesterol (mg/dL)292175131145
HDL (mg/dL)252618
HOMA-IRNANA1.89.9
Glucose (fasting) (mg/dL)2592918275
GlycohemoglobinA1c (%)6.45.15.7
Triglycerides (mg/dL)816306519397
Abdominal ultrasoundRenal microlithiasis, hepatomegaly, hepatic steatosis, and nephromegalyHepatomegaly, hepatic steatosis, and nephromegaly
Cardiovascular autonomic neuropathy testsaClinical/
Advanced
Absent
Conventional echocardiographyincreased left atrium, apical hypokinesia, preserved systolic functionNormal
GLS by speckle-tracking echocardiography− 17.9%b− 19.3%b
  1. At the first * and the last ** clinical evaluation
  2. aCardiovascular autonomic neuropathy tests: deep breathing test (E/I coefficient), valsalva maneuver, orthostatic test (30/15 coefficient) and orthostatic or postural hypotension test
  3. bGLS: Global longitudinal strain, reference value (adults): − 21.1 to − 19.4; (2–9 years old): − 23.9 to − 22