Hyperuricemia is frequently found in nephrology.
The case presented may be useful to clarify some pathogenetic aspects. It is a patient of 18 years, hyperuricaemic. Non-consanguineous parents, hyperuricemia in the paternal line, not neuropsychiatric disorders in the family.
Delay in neuromotor acquisitions, average intellectual disabilities, anxiety disorder, obsessive-compulsive personality traits.
Normal renal function and renal ultrasound. Evidence of hyperuricemia in 2015.
Never gouty episodes and / or lithiasis, initiated allopurinol 100 mg on alternate days, with no side effects, urea in the control range, slightly below normal uricuria.
Given the complex clinical, he carried out a genetic analysis of array-CGH. He showed a deletion on the short arm of chromosome 3 (3p12.3) and a duplication of the long arm of chromosome 1 (19q13-42).
The deletion 3p12.3 (paternal inheritance), involves the ROBO2 gene.
Duplication 19q13.42, (maternal inheritance), includes NLRP12, DPRX, ZNF331 genes. The ROBO2 gene with its mutation, is associated with vesicoureteral reflux. The NLRP12 gene encodes proteins called “Nalps”, forming a subfamily of proteins “CATERPILLAR”. Many “Nalps” as well as the “Nalps 12” have an N-terminal domain (DYP) with a purin. Since uric acid is a byproduct of purine metabolism, considered the familiarity, we believe that we can hypothesize that the mutations found, In particular those concerning the NLRP-12 gene, may have a role in the presence of hyperuricemia.
We believe that in patients with hyperuricemia, associated with a particular impairment of neurological picture, it is likely that there is a subtended common genetic deficiency.
KEYWORDS: uric acid, intellectual disabilities, genetics, allopurinol