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Table 1 Clinical phenotypes of patients with the HNF4A p.R63W mutation

From: HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature

Family I II II II III IV V VI VII VIII IX X XI XI
Patient No 1 2 3 4 5 6 7 8 9 10 11 12 13 14
Current age N/A 30y 29y 5y 39y 17y 7y N/A N/A 10 m Died N/A N/A N/A
Sex F F F M F F F M M M M M F M
Macrosomia + + + + + + +
Hypoglycemia (onset age) +, Day1 +, Neonatal +, Neonatal +, Neonatal +, Neonatal +, Neonatal +, Neonatal +, Day1 +, Day1 +, Day2 +, Neonatal +, Day1 +, Neonatal +, Neonatal
Treatment and duration Diazoxide, 4 years Intravenous glucose, 1 week Intravenous glucose, 3 days Diazoxide, 2 weeks Intravenous glucose Diazoxide, 4 years Diazoxide, 6 months Diazoxide Intravenous glucose, 17 days Diazoxide, 10 months Diazoxide, 7 months (died) Diazoxide, 3 months N/A N/A
Diabetes (age) +, (20 years) +, (12 years)
Liver involvement (onset age) +, 3 m +, 7 m +, Neonatal +, 6 m +, Neonatal
Presentation Hepatomegaly and elevated transaminases Hepatomegaly and elevated transaminases Elevated conjugated bilirubin Hepatomegaly and elevated transaminase Jaundice and hepatomegaly
Liver biopsy Abundant cytoplasmic glycogen +, Normal
Fanconi syndrome (onset age) +, 1y +, 25y +, 23y +, Neonatal +, 3y +, 4y +, 4y +, 4 m +, 8 m +, Neonatal +, Neonatal +, 18 m +, 3y +, Neonatal
Growth retardation N/A + + + + + + N/A + N/A N/A + + N/A
Rickets + + + N/A N/A N/A N/A + N/A N/A + +
Nephrocalcinosis N/A + + + + + + N/A + N/A
eGFR N/A 47 39 42 23 60 62 N/A N/A N/A N/A N/A 47 N/A
Ref. Stanescu et al. [2] Hamilton et al. [1] Hamilton et al. [1] Hamilton et al. [1] Hamilton et al. [1] Hamilton et al. [1] Hamilton et al. [1] Numakura et al. [3] Numakura et al. [3] Improda et al. [4] Improda et al. [4] Clemente et al. [5] Walsh et al. [6] Walsh et al. [6]
  1. eGFR estimated glomerular filtration rate, F female, m month, M male, N/A not available, y year, + yes, no