Nephrology Diseases
Genetic diagnosis in hereditary kidney diseases
The Importance of Genetic Tests in Nephrology
- They play an important role in identifying the underlying genetic disease, its mode of inheritance, and family members at risk.
- In addition to detecting the mutation causing the disease, they help with treatment optimization and achieving better prognoses.
- They help avoid ineffective treatments with steroids and other immunosuppressive drugs in patients with Nephrotic Syndrome.
- They play a critical role in predicting recurrence after transplantation.
Hereditary Kidney Diseases
Hereditary kidney diseases account for 50% of chronic kidney failure in children and 20% in adults. Many kidney diseases can lead to end-stage kidney disease requiring kidney transplantation. A significant proportion of patients with the condition called nephrotic syndrome (NS) struggle with "steroid-resistant NS". The prognosis in these patients is poor, because 30-40% of them tend to progress to end-stage renal disease requiring dialysis and transplantation.
Genetic nephrological diseases are usually congenital and can manifest at any period of life.
Prenatal Period
Some genetic nephrological diseases may become evident in the prenatal period. For example, diseases such as polycystic kidney disease usually begin in the prenatal period.
Childhood
Some genetic nephrological diseases, such as Alport syndrome, may show symptoms in childhood. The first signs are usually problems with kidney function, urinary tract infections or bloody urine.
Adolescence
Nephrological problems due to genetic metabolic disorders may become more evident during adolescence. For example, some stone-formation-related genetic diseases may emerge in this period.
Adulthood
Some genetic nephrological diseases may become evident in young adulthood or later in life. This can manifest with symptoms such as progressive impairment of kidney function, hypertension or protein loss.