ARC, syndrome
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Rare. Association of arthrogryposis, renal tubular acidosis and cholestasis. Sometimes associated with a thrombopathy similar to 'grey platelets' syndrome. Death during the first year of life.
Anesthetic implications:
Risk of bleeding: check the morphology of platelets, platelets function tests are normal.
References :
- Hayes JA, Khar WHA, Lo B, McPherson BA.
Liver biopsy complicated by hemmorrhage in a patient with ARC syndrome.
Pediatr Anesth 2004; 14: 960-3.
- Jang JY, Kim KM, Kim GH, Yu E, Lee JJ, Park YS, Yoo HW.
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
J Pediatr Gastroenterol Nutr 2009; 48:348-54.
Updated: November 2019