Nephrology Diseases
The Importance of Genetic Testing in Nephrology
Plays a crucial role in identifying the underlying genetic disease, its inheritance pattern, and family members at risk.
Beyond detecting the causative mutation, it aids in treatment optimization and contributes to achieving better prognoses.
Helps avoid ineffective treatments with steroids or other immunosuppressive drugs in patients with nephrotic syndrome.
Plays a critical role in predicting recurrence after kidney transplantation.
Hereditary Kidney Diseasesı
Chronic kidney failure is caused by hereditary kidney diseases in 50% of children and 20% of adults. Many kidney diseases can lead to end-stage renal disease, requiring kidney transplantation. A significant portion of patients with this condition, known as nephrotic syndrome (NS), struggle with “steroid-resistant NS.” The prognosis for these patients is poor, as 30–40% tend to progress to end-stage renal disease requiring dialysis and transplantation.
Genetic kidney diseases are usually congenital but can manifest at any stage of life.
Prenatal Period:
Some genetic kidney diseases may become evident before birth. For example, conditions like polycystic kidney disease often begin during the prenatal period.
Childhood:
Certain genetic kidney diseases, such as Alport syndrome, may show symptoms during childhood. Early signs often include kidney function problems, urinary tract infections, or blood in the urine.
Adolescence:
Kidney issues related to genetic metabolic disorders may become more apparent during adolescence. For example, some genetic conditions associated with kidney stone formation may appear at this stage.
Adulthood:
Some genetic kidney diseases may only become noticeable in young adulthood or later. These can present as progressive kidney dysfunction, hypertension, or proteinuria.
Monogenic Glomerular Diseases
Congenital SRNS (Steroid-Resistant Nephrotic Syndrome)
Pierson Syndrome
Nail-Patella Syndrome
Alport Syndrome
Glomerular Nephrotic Syndrome Panel (47 genes)
Fabry Disease
Cystic, Interstitial, and Tumoral Diseases
ADPKD Type 1 (Autosomal Dominant Polycystic Kidney Disease Type 1)
ADPKD Type 2 (Autosomal Dominant Polycystic Kidney Disease Type 2)
ARPKD (Autosomal Recessive Polycystic Kidney Disease)
Nephronophthisis
Hyperuricemic Nephropathy
Bardet-Biedl Syndrome
Tuberous Sclerosis Type 1 and Type 2
Von Hippel-Lindau Syndrome
Tubular Diseases
Bartter Syndrome
Gitelman Syndrome
Renal Tubular Acidoses
Fanconi–Bickel Syndrome
Cystinosis
Tubular Nephrotic Syndrome Panel (42 genes)
Nephrology Panel (31 genes)
Kidney Cancer Panel (Somatic) – 43 genes
Kidney Cancer Panel (Germline) – 43 genes
