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Condition report · Urological

Renal Hypouricemia

An inherited condition in which the kidneys lose too much uric acid into the urine, leaving very low blood uric acid levels. It is often silent but can cause kidney stones or sudden kidney injury after strenuous exercise.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Hereditary Renal Hypouricemia

Autosomal recessive

A recessive disorder of uric acid reabsorption caused by variants in SLC22A12 or SLC2A9, associated with exercise-induced acute kidney injury and uric acid stones.

What a diagnosis changes

Knowing supports staying well hydrated and avoiding extreme anaerobic exercise to reduce the risk of kidney injury.

Genes analysed

Also known as

hypouricemia, renal

Includes 5 related subtypes ↓
  • hypouricemia, familial renal, due to tubular hypersecretion
  • hypouricemia, hypercalcinuria, and decreased bone density
  • hypouricemia, renal
  • hypouricemia, renal 1
  • hypouricemia, renal, 2
MONDO:0009071Orphanet 94088MedGen 1643078

Other urological conditions

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