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] |