Nephrology and Kidney disorders

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Genetic testing for renal diseases can be done when an individual presents with:

• Lower abdominal/loin pain
• Urinary tract infections
• Hematuria
• Renal dysfunction
• Family history of kidney disease

Studies indicate that renal disorders are not just environmental but also genetic,

affecting 5-15% of the total adult population. In fact, 20% of chronic cases are thought to be due to genetic forms of renal disease.

CAKUT accounts for approximately 50% of children with end-stage kidney disease. They occur in about 3 to 6 per 1,000 live births and constitute 20–30% of all anomalies identified in the neonatal period. CAKUT may present as an isolated feature or as part of clinical syndromes. 

Single-gene mutations in many different genes may cause a wide phenotypic spectrum of CAKUT and these are listed below.

• Renal agenesis
• Renal hypodysplasia
• Multicystic renal dysplasia
• Vesicoureteral reflux

Polycystic kidney disease manifests in utero or at birth and is associated with a shortened life expectancy. The kidney phenotype includes bilateral renal enlargement and impairment of renal function and congenital liver fibrosis.

Nephrotic syndrome (NS) is associated with a dysfunction of the glomerular filter of the kidneys, leading to excessive loss of plasma proteins. NS is characterized by high proteinuria and hypalbuminemia which can occur in childhood or in adult in the context of other underlying diseases such as immunological systemic diseases, metaboli diseases, chronic infections or intoxications.

Alport syndrome is progressive hereditary nephropathy. Clinical signs are proteinuria and hematuria, but patients develop terminal renal failure as the disease progresses. In addition, non-renal manifestations such as early onset of hearing loss and ocular changes are observed.