RESUMEN
BACKGROUND: Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver failure. Classically, progressive familial intrahepatic cholestasis is classified into three subtypes: 1, 2, and 3 and results from a defect in a biliary protein responsible for bile formation and circulation in the liver. In the last decade and with the increased use of genetic testing, more types have been known. CASE PRESENTATION: A 6-month-old Afrocentric boy presented with progressive jaundice and pruritus that started since the age of 2 months. He was thoroughly investigated to be finally diagnosed as progressive familial intrahepatic cholestasis type 4. A low-fat diet, ursodeoxycholic acid, fat-soluble vitamins, and cholestyramine were started. He showed initial improvement then had refractory pruritus and impaired quality of life. He underwent surgical biliary diversion at the age of 1 year with marked improvement of manifestations. CONCLUSION: Owing to the increased technology of genetic testing, more clinical subtypes of progressive familial intrahepatic cholestasis were diagnosed other than the classical three types. Surgical management using biliary diversion could be beneficial and delays or may even obviate the need for liver transplantation.
Asunto(s)
Colestasis Intrahepática , Prurito , Ácido Ursodesoxicólico , Humanos , Masculino , Colestasis Intrahepática/genética , Colestasis Intrahepática/diagnóstico , Prurito/etiología , Lactante , Ácido Ursodesoxicólico/uso terapéutico , Dieta con Restricción de Grasas , Ictericia/etiología , Resina de Colestiramina/uso terapéutico , Colagogos y Coleréticos/uso terapéutico , Vitaminas/uso terapéutico , Resultado del Tratamiento , Calidad de VidaRESUMEN
While there have been notable advancements in child health in Egypt, disparities in child mortality still exist. Understanding these disparities is crucial to addressing them. The objective of this study is to explore the factors linked to child mortality in Egypt, providing a comprehensive understanding of the disparities in child mortality rates. The study utilises cross-sectional data from Egypt's Demographic and Health Survey (EDHS) in 2014 to examine child mortality. The dataset consists of 15,848 observations from mothers with children born within five years prior to the survey. The choice of explanatory variables was guided by the Mosely and Chen Framework and logistic multivariate regression was used to conduct the analyses. The study finds lower education, early childbearing, insufficient birth spacing, lack of breastfeeding, and absence of improved toilet facilities (proxy for living conditions) were all significantly linked to an increased likelihood of child loss. Additionally, poorer people in rural settings experienced the worst child mortality. The findings align with the World Health Organization's Conceptual Framework for Action on the Social Determinants of Health (CSDH). Recommended policy interventions include targeting women in rural areas, improving living conditions and removing financial/other barriers to accessing care.