Genetic Conditions

Horseshoe kidney

This is the most common renal anomaly, which occurs when the kidneys are conjoined.

– Rather than being on the two flanks, the single kidney is situated in the lower part of the abdomen near the origin of the inferior mesenteric artery.


Often asymptomatic, but experience nausea, UTI and stones more frequently


No treatment for renal fusion, just symptomatic management.

Polycystic kidney disease

This is a genetic condition which leads to the development of multiple cysts on the kidneys.

– It exists as both autosomal dominant and recessive forms:


Autosomal dominant

This occurs due to a mutation is PKD1 (Chr 16), or PKD2 (Chr 4) – less severe


– Clinically silent initially but gives symptoms in early adulthood

 – Hypertension (due to renin release), hematuria, cyst infection and kidney failure

– Associated with liver cysts (70%) + Berry aneurysms (8%) + Cardiovascular abnormalities (Mitral valve prolapse, valve incompetence, aortic dissection)


Abdominal ultrasound is used to detect cysts


– High water intake

– Kidney transplantation

– Tolvaptan if patients have CKD stage 2/3 or rapidly progressing disease

Autosomal recessive

This is due to mutation in Chromosome 6 (fibrocystin) which is needed for renal tubule development


Presents in infants with renal cysts giving renal failure and hypertension

– Gives associated hepatic fibrosis giving portal hypertension and hepatic cysts


Prenatal screening or ultrasound during infancy

Renal Phakomatoses

This is a group of neuro-cutaneous syndromes that involve structures from the embryonic ectoderm.

– The ectoderm classically gives rise to the nervous system, eyes, teeth and skin.

– However, they can also involve organs from other germ layers, including the kidney


Tuberous Sclerosis complex

This is an autosomal dominant multisystem disorder due to 2 genes.

– Causes hamartoma formation in skin, brain, eyes leading to epilepsy

– In the kidney, causes benign tumours in 90% with risk of aneurysm and cystic disease.

Von Hippel-Lindau syndrome

This is an autosomal dominant mutation in VHL gene

– This leads to uncontrolled activation of growth factors, given renal cysts and renal cell carcinoma in patients at early ages + other tumours (e.g. pheochromocytoma).

Cysteine Diseases



This is an autosomal Recessive Lysosomal storage disorder with accumulation of cysteine crystals in various organs of the body.

– It builds up in kidney causing PCT dysfunction, Fanconi syndrome and progressive renal failure.

– Can also build up in eyes (visual impairment), muscles and brain.


Oral cysteamine decreases cysteine accumulation


This is an autosomal recessive conditions stopping cysteine reabsorption in the PCT

– Leads to cysteine in the urine and cysteine urinary tract stones, often seen in children


Increase fluid intake + urine alkalization

Fabry disease

This is an x-linked recessive lysosome storage disorder of a-Galactosidase-A deficiency


Proteinuria and progressive renal failure


Lipid deposits seen in urine and renal biopsy


Treated with IV enzyme replacement to stabalise kidney function