TABLE 3.
Comparison of current status of siblings with a homozygous MYO5B variant
| Case 2 (12-year-old boy) | Case 3 (10-year-old girl) | |
|---|---|---|
| INR elevation | No | No |
| Episodes of diarrhea necessitating hospital admission | No | Yes |
| Treatment with fat-soluble vitamin supplements | Yes | Yes |
| Height z score/weight z score | −0.45/−1.01 | −2.62/−2.81 |
| Bone age, y | 11.81 | 7.49 |
| Bone mass density z score | −0.8 | −2.1 |
| Severe cholestasis | Yes | Yes |
| ALT/ALP (ref. 8–32/17–46) U/L | 21/990 | 41/694 |
| Bile salt (ref. <17) µmol/L | >150 | 26 |
| Itching | Yes | No |
| Number of anticholestatic medications | 4 | 2 |
Cholestatic medication: Ursodeoxycholic acid, Rifabutin, Cholestyramine, Naltrexone.
ALT = alanine aminotransferase; ALP = alkaline phosphatase; INR = International Normalized Ratio.