Kidney and Urinary Diseases
Your kidneys are amazing organs helping to remove waste from blood, balance fluids within our body, form urine, and aid in other important functions of the body. Inherited or genetic causes of kidney diseases are rare, with the exception of autosomal dominant polycystic kidney disease, the fourth most common cause of end-stage renal disease in developed countries.
Advances in genetic techniques assessing the kidney are providing novel insights into kidney diseases, especially diagnosis, classification, pathogenesis and therapy. Many diseases that you are born with (congenital kidney diseases) are due to single gene defects (e.g., some cases of nephrotic syndrome resistant to steroids). It is also becoming clear that some adult-onset kidney diseases - which are far more common- have a genetic component.
Congenital anomalies of the kidney and urinary tract anatomy represent approximately 30% of all prenatally diagnosed malformations.
- 22q11.2 deletion syndrome
- Aarskog disease - See Aarskog syndrome
- Aarskog syndrome
- Aarskog-Scott syndrome - See Aarskog syndrome
- AAS - See Aarskog syndrome
- acid maltase deficiency - See Pompe disease
- Acute intermittent porphyria
- Alpha-Galactosidase A deficiency - See Fabry disease
- Alpha-thalassemia
- Alpha-thalassemia/mental retardation syndrome, x-linked
- Anderson-Fabry disease - See Fabry disease
- Angiokeratoma corporis diffusum - See Fabry disease
- Bardet-Biedl Syndrome
- Bartholin-Patau syndrome - See Trisomy 13
- Bilateral renal agenesis
- BOR syndrome - See Branchiootorenal syndrome
- Bourneville disease - See Tuberous sclerosis
- Branchiootorenal syndrome
- CHARGE syndrome
- Cystinosis
- Fabry - See Fabry disease
- Fabry disease
- Familial hypospadias
- GLA deficiency - See Fabry disease
- Glycogen storage disease 1a
- glycogen storage disease II - See Pompe disease
- Hereditary Renal Adysplasia - See Bilateral renal agenesis
- Lowe oculocerebrorenal syndrome
- Male Turner syndrome - See Noonan syndrome
- Meckel syndrome
- MEN1 - See Multiple endocrine neoplasia 1
- Multiple endocrine neoplasia 1
- Noonan syndrome
- Patau syndrome - See Trisomy 13
- Polycystic kidney disease, autosomal recessive
- Pompe disease
- Renal adysplasia - See Bilateral renal agenesis
- Renal agenesis - See Bilateral renal agenesis
- Renal aplasia - See Bilateral renal agenesis
- Renal Hypodysplasia/aplasia - See Bilateral renal agenesis
- Renal hyposdysplasia - See Bilateral renal agenesis
- RHDA - See Bilateral renal agenesis
- Scott Aarskog syndrome - See Aarskog syndrome
- Smith-Lemli-Opitz syndrome
- Spina bifida - hypospadias
- Trisomy 13
- Trisomy 18
- TT1 - See Tyrosinemia Type I
- Tuberous sclerosis
- Turner-like syndrome - See Noonan syndrome
- Tyrosinemia Type I
- Ullrich-Noonan syndrome - See Noonan syndrome
- Von hippel-lindau syndrome
- Williams Syndrome
- Wilms Tumor
- Wilson disease
