Liver Kidney Disease A Severe Form Of Hereditary Disease

Polycystic kidney disease (PKD) is a severe form of hereditary disease which results from a monogenic disorder. The disease causes enlargement alongside with functional impairment. It results in clusters of cysts mainly within the kidneys. Cysts are noncancerous round sacs consisting of water like fluid which vary in size depending on its accumulating growth (Mayo Clinic Staff, 2014). This cystic disease consists of two forms, an autosomal dominant PKD (ADPKD) and an autosomal recessive PKD (ARPKD). The purpose of this research paper is to increase chances of healthy babies born to couples whom both transmit a mutation of PKHD1 gene, wanting to have a child unaffected with autosomal recessive polycystic kidney disease (ARPKD). A recessive mutation/disease is when the gene is inherited from both parents. This disease is of major interest due to the amount of individuals affected widely. Over 12.5 million individuals have PKD, with approximately 30% of affected children dying within th eir first year of life; making it a major source of morbidity and mortality concern (Miyazaki et al., 2015). ADPKD makes up to 96-98% of all cases, and ARPKD up to 2-5%. Although ADPKD is more harmful, the main focal point of this research paper is on autosomal recessive polycystic kidney disease (ARPKD). Due to the abnormalities in the biliary plates it leads to congenital hepatic fibrosis in infants. Congenital hepatic fibrosis is the disease of the liver which is usually present from birth.Show MoreRelatedSymptoms and Treatments of Hemochromatosis756 Words   |  3 PagesHemochromatosis, also called iron overload, is a disease when the body absorbs too much iron from the food we eat and most often affects the liver, heart, pancreas, and skin. It is usually caused by genes in the body that mutate keeping them from working. 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