Dursun, syndrome
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Very rare: < 1/106. Autosomal recessive transmission of a mutation of the G6PC3 gene on 17q21. This gene encodes for the subunit 3 of the ubiquitous glucose-6-phosphatase. Other mutations in this gene cause congenital neutropenia type 4.
Association of:
- pulmonary arterial hypertension
- cardiac malformation: mostly ASD of the ostium secundum type
- leukopenia (sometimes anemia or intermittent thrombopenia)
- a very apparent peripheral venous network
Sometimes: pectus carinatum, long fingers and thumbs in proximal position, arched or cleft palate.
High sensitivity to infections.
Anesthetic implications:
check leukocytes, platelets, red blood cells; echocardiography; antibiotic prophylaxis.
References :
- Banka S, Newman WG, Ozgul RK, Dursun A.
Mutations in the G6PC3 gene causes Dursun syndrome.
Am J Med Genet (2010): part A, 152: 2609-11. -
- Banka S, Newman WG.
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
Orphanet J Rare diseases 2013; 8: 84.
Updated: June 2019