Renal hereditary hypouricemia

[MIM 220 150242 050307 830612 076 ]

Rare. Incidence estimated at 0.15% in Japan. Plasma hypouricemia is due to excessive urinary excretion of uric acid due to a mutation of the SLC22A12 gene on 11q13. This causes a deficiency in urate transporter 1 (URAT1) at the level of the apical membrane of the proximal tubular epithelial cells.

This anomaly has usually no clinical consequence but can result in urinary lithiasis composed of uric acid, hypercalciuria or microscopic hematuria. However, uric acid is a powerful antioxidant: an excess of oxidants at the renal level can lead to arterial vasoconstriction. That is why these patients are at risk of non-oliguric acute renal failure induced by physical exercise or dehydration. An excess of urate crystals at the tubular level is also a possible cause of these acute renal failure crises.


Anesthetic implications: 

monitor renal function; ensure normal preoperative hydration; safety of NSAIDs ?


References : 


Updated: October 2018