Hereditary hyperuricemia

Introduction to hereditary hyperuricemia Hereditary hyperuricemia is an enzyme that causes sputum metabolism in children due to genetic mutations, that is, partial or complete deficiency of hypoxanthine-guanine phosphoribosyltransferase activity, which in turn leads to accelerated metabolism of sputum and hyperuricemia. basic knowledge The proportion of illness: 0.001% Susceptible people: male Mode of infection: non-infectious Complications: renal colic anal atresia cryptorchidism

Cause of hereditary hyperuricemia

(1) Causes of the disease

Hereditary hyperuricemia is a recessive hereditary disease of the X chromosome.

(two) pathogenesis

The pathogenesis of this disease has been clarified that Xq2627.2 gene mutation leads to partial or complete deficiency of hypoxanthine-guanine phosphoribosyltransferase activity in children with sputum metabolism, which leads to accelerated metabolism of sputum, and secondary jaundice, jaundice and The uric acid content increased significantly, and the central nervous system dopamine was reduced by about 30%, but the exact mechanism by which these biochemical changes trigger nervous system damage remains unclear.

Hereditary hyperuricemia prevention

Because of the difficulty in the treatment of nervous system genetic diseases, the efficacy is not satisfactory, prevention is more important, preventive measures include avoiding close relatives marriage, implementing genetic counseling, carrier genetic testing and prenatal diagnosis and selective abortion to prevent the birth of children.

Hereditary hyperuricemia complications Complications renal colic anal atresia cryptorchidism

There are gout clinical manifestations, such as hand and foot joint pain, gout nodules, and may have urinary calculi and renal colic, etc., a small number of megacolon, anal atresia, congenital hip dislocation and cryptorchidism and other congenital malformations.

Hereditary hyperuricemia symptoms Common symptoms Hyperuricemia Mild mental retardation Urinary calculi Reflex hyperthyroidism Involuntary movement Middle finger Nail depression Nodules Intelligent obstacle Lower limbs Scissor gait

1. All children are male, female is genetic carrier, clinical features are mental retardation, spastic cerebral palsy, dance-like involuntary movement and self-injury behavior, usually starting from 3 to 4 months of birth, gradually appearing subtle The hands and feet move or dance like involuntary movement, the muscle tension is reduced, the baby who can already raise the head does not stand up, has the ability to sit and lose, can not walk, etc., some children show increased muscle tone, hyperreflexia , lower limb scissors-like posture, etc.

2. The child's intelligent developmental delay, the original church pronunciation, language, words and gradually forgotten, may be accompanied by repeated vomiting, unclear articulation, dysphagia and seizures, etc., 2 to 3 years old often bite tongue, bite lip, bite Self-injury behaviors such as fingers and grasping the genitals, as well as biting, destroying surrounding objects can not be homemade.

3. Systemic symptoms of gout joint pain in the hands and feet, gout nodules, urinary tract stones and renal colic, etc., a small number of megacolon, anal atresia, congenital hip dislocation and cryptorchidism and other congenital malformations.

4. Children's blood uric acid increased significantly, urine uric acid also increased significantly, cerebrospinal fluid examination was normal, CT examination can be found brain atrophy.

Examination of hereditary hyperuricemia

1. Blood uric acid increased significantly normal value <357 ~ 417mol / L.

2. Urinary uric acid also increased significantly <18mg / (kg · 24h).

3. Cerebrospinal fluid routine examination is normal.

4. CT examination can find brain atrophy.

5. Genetic testing has important diagnostic value.

Diagnosis and differentiation of hereditary hyperuricemia

Diagnose based on

Typical neurological symptoms and blood of children, urinary uric acid content increased significantly, etc., it should be noted that the increase of blood uric acid alone can not be used as a basis for diagnosis, and must be differentiated from other mental retardation, chronic kidney disease and encephalopathy.

Differential diagnosis

Identification with mental retardation, chronic kidney disease complicated with encephalopathy.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.