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TABLE 3

Main clinical characteristics of the patients with MODY5 due to mutations or deletions of TCF2

MutationDeletionP
n 18 10  
Age at latest follow-up (years) 45.7 ± 11.6 (34–73) 37.5 ± 15 (13–57) NS 
Age at first manifestation (years) 27.7 ± 13.9 (1–58) 17.8 ± 14.8 (1–52) 0.04 
Diabetes    
    Age at diagnosis (years) 29.5 ± 12.2 (10–58) 25.7 ± 15 (10–53) NS 
    Symptoms at diagnosis (yes/no) 4/14 7/3 0.02 
    BMI at diagnosis (kg/m224.9 ± 3.3 (17.8–32) 21.6 ± 4.0 (15–26.9) NS 
    HbA1c at last examination (%) 7.2 ± 1.0 (5.6–9.2) 7.1 ± 1.6 (5.5–9.5) NS 
    Insulin therapy (yes/no) 14/4 6/4 NS 
Kidney disease    
    Age at diagnosis (years) 32.4 ± 16.2 (1–63) 22.7 ± 17.2 (1–57) NS 
    Kidney cysts (yes/no) 14/4 7/3 NS 
    Other kidney morphological abnormalities 8/10 6/4 NS 
    Creatinine clearance at latest examination (ml/min of 1.73 m240 ± 20.1 (5.5–74) 61.0 ± 31.6 (15.8–108) NS 
    Systolic blood pressure (mmHg) 127 ± 18 (104–170) 127 ± 15 (106–150) NS 
    Diastolic blood pressure (mmHg) 76 ± 8 (60–90) 73 ± 6 (60–80) NS 
Genital abnormalities    
    n/n examined 8/10 4/5 NS 
Pancreas morphology abnormalities    
    n/n examined 9/15 3/5 NS 
Liver disease    
    Liver tests abnormalities (yes/no) 14/3 9/1 NS 
MutationDeletionP
n 18 10  
Age at latest follow-up (years) 45.7 ± 11.6 (34–73) 37.5 ± 15 (13–57) NS 
Age at first manifestation (years) 27.7 ± 13.9 (1–58) 17.8 ± 14.8 (1–52) 0.04 
Diabetes    
    Age at diagnosis (years) 29.5 ± 12.2 (10–58) 25.7 ± 15 (10–53) NS 
    Symptoms at diagnosis (yes/no) 4/14 7/3 0.02 
    BMI at diagnosis (kg/m224.9 ± 3.3 (17.8–32) 21.6 ± 4.0 (15–26.9) NS 
    HbA1c at last examination (%) 7.2 ± 1.0 (5.6–9.2) 7.1 ± 1.6 (5.5–9.5) NS 
    Insulin therapy (yes/no) 14/4 6/4 NS 
Kidney disease    
    Age at diagnosis (years) 32.4 ± 16.2 (1–63) 22.7 ± 17.2 (1–57) NS 
    Kidney cysts (yes/no) 14/4 7/3 NS 
    Other kidney morphological abnormalities 8/10 6/4 NS 
    Creatinine clearance at latest examination (ml/min of 1.73 m240 ± 20.1 (5.5–74) 61.0 ± 31.6 (15.8–108) NS 
    Systolic blood pressure (mmHg) 127 ± 18 (104–170) 127 ± 15 (106–150) NS 
    Diastolic blood pressure (mmHg) 76 ± 8 (60–90) 73 ± 6 (60–80) NS 
Genital abnormalities    
    n/n examined 8/10 4/5 NS 
Pancreas morphology abnormalities    
    n/n examined 9/15 3/5 NS 
Liver disease    
    Liver tests abnormalities (yes/no) 14/3 9/1 NS 

Data are means ± SD (range).

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