Hereditary Kidney Diseases PDF
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Uploaded by IrreplaceableCamellia
Mammadzada A.Y and Ismayilova Sh.G
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Summary
This presentation discusses hereditary kidney diseases, focusing mainly on autosomal dominant polycystic kidney disease (ADPKD). It explains the disease's characteristics, the mutations involved, and some relevant clinical information. The presentation also covers related topics such as the diagnosis, inheritance patterns, and treatments, providing a general overview of the condition.
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Hereditary kidney diseases: Autosomal dominant polycystic kidney disease, Alport syndrome, Fanconi syndrome, congenital kidney anomalies PhD. MD Mammadzada A.Y PhD. MD Ismayilova Sh.G Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the...
Hereditary kidney diseases: Autosomal dominant polycystic kidney disease, Alport syndrome, Fanconi syndrome, congenital kidney anomalies PhD. MD Mammadzada A.Y PhD. MD Ismayilova Sh.G Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the formation of multiple cysts in both kidneys (bilateral) and sometimes in other organs (liver, pancreas). A number of gene mutations can affect the development of ADPKD. PKD1 gene mutation (16 chromosomes) is 85-90% more common than PKD2 gene mutation (4 chromosomes). Based on research, neither PKD1 nor PKD2 mutation was detected in some families (PKD3?). In the families of persons diagnosed with ADPKD, in most cases (95%) one of the parents also had this diagnosis. In 5% of cases, these mutations were found "de novo". Although the mutant gene is present in all cells, cysts are formed in certain parts of the tubules and the number of affected nephrons is small (
