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Nephrology Diseases

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