Mutations in Myosin 5B (MYO5B) have been linked to microvillus inclusion disease (MVID) which is a hereditary cause of intractable diarrhoea in newborns. They have lately been described in youngsters with cholestasis but no classic MVID gastrointestinal symptoms. Researchers provide a case study of children with cholestasis and MYO5B mutations. Clinical, biochemical, and histological data were gathered from individuals with cholestasis and pathogenic MYO5B mutations discovered by next generation sequencing (NGS) but with minimal gastrointestinal illness. There were six patients found out. At the presentation, the median age was 19 months. Jaundice, pale stools, pruritus, and failure to thrive were among the symptoms. Patients 5 and 6 had persistent diarrhoea until they were 3 and 7 years old, respectively, but are now on a complete enteral diet and have no digestive problems. Serum total bilirubin was 55 mol/L, alanine aminotransferase was 73I IU/L, -glutamyltransferase was 7 IU/L, and serum bile acids were 134 mol/L. For symptom relief, three individuals had one or more kinds of biliary diversion. They all experienced pruritus while using antipruritics at the most recent follow-up.
They found 6 individuals who had MYO5B mutations, early-onset cholestasis and pruritus, and a varied response to biliary diversion without classic MVID.
Reference: https://journals.lww.com/jpgn/Fulltext/2020/08000/Mutations_in_Myosin_5B_in_Children_With.11.aspx
