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Three of the most important renal disorders diagnosed are polycystic kidney disease, Alport syndrome and cystinosis. Polycystic kidney disease (PKD) is one of the most common life-threatening genetic disorders. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common human monogenic diseases with an estimated incidence of 1: 500 to 1: 1,000 7,8. Although ADPKD is often considered a disease of adults, it is clear that the disease begins in childhood. Renal cysts in children with ADPKD have been associated with broad clinical spectra, ranging from completely asymptomatic patients to those presenting as newborns with massive renal enlargement, hypertension, oliguria and pulmonary hypoplasia. 8. Autosomal recessive PKD (ARPKD) occurs in approximately 1: 30,000 people9. Most individuals with ARPKD present in the neonatal period with enlarged echogenic kidneys. More than 50% of individuals affected with ARPKD progress to end-stage renal disease within the first decade of life9.
Cystinosis is associated with the accumulation of cystine within the lysosomes of various tissues and organs. The disease is caused by mutations in the CTNS10 gene and follows an autosomal recessive inheritance mode. There are three forms of cystinosis: infantile, juvenile and ocular. In the infantile form, the disease progresses and results in kidney failure around 6 years. In the juvenile form, end-stage renal disease usually occurs after age 15. The ocular shape is often found in adults, showing corneal tears. and photophobia, but otherwise they are asymptomatic. Early detection of the disease can significantly improve the prognosis.
Reasons for Reference
People who have the most common symptoms of kidney disease.
Individuals with a positive family history of kidney disease.
Individuals without a positive family history but with symptoms that resemble the indication of a specific disease.
Individuals with a negative family history, but suspicious, to perform genetic counseling (prenatal tests are recommended in families of affected individuals).