Hipertensión arterial grave en dos pacientes con homocistinuria familiar: respuesta al tratamiento con vitamina B6, ácido fólico y enalapril / Severe arterial hypertension in two cases of familiar homocystinuria: Response to the treatment with B6 vitamin, folic acid, and enalapril
Arch. argent. pediatr
; 105(6): 538-542, dic.2007. ilus
Article
in Spanish
| LILACS
| ID: lil-478477
Responsible library:
AR94.1
RESUMEN
La homocistinuria, enfermedad genética autosómica recesiva, se caracteriza por déficit de enzimas vinculadas con el metabolismo de metionina. En esta comunicación se presentan dos hermanos que fueron internados con cuadros de hipertensión arterial grave. Sobre la base de luxación de cristalino, retraso en el desarrollo, dosaje de homocisteína plasmática y urinaria,se diagnosticó homocistinuria clásica. El tratamiento del trastorno metabólico se realizó con vitamina B6 500 mg/día, ácidofólico 5,0 mg/día y dieta pobre en metionina. Luego de tres años de tratamiento se han observado cambios favorables en el aspecto general y en los síntomas articulares y no se han repetido cuadros de hipertensión arterial grave.
ABSTRACT
Homocystinuria, an autosomal recessive genetic disease, is characterized by deficiency of enzimes related to the methionine metabolism. In the present communication we present two brothers who were hospitalized due to severe high blood pressure. Based on the lens dislocation, slowness in body growth, both plasmatic and urinary homocysteine levels, classic homocystinuria was diagnosed. The treatment of the metabolic disorder was B6 vitamin 500 mg/day, folic acid 5.0 mg/day and a low methionine diet. After three years of this treatment, favorable changes in their general aspect and their articular symptoms were observed. Severe high blood pressure episodes have not been repeated.
Full text:
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Collection:
International databases
Database:
LILACS
Main subject:
Enalapril
/
Folic Acid
/
Homocystinuria
/
Hypertension
Limits:
Child
Language:
Spanish
Journal:
Arch. argent. pediatr
Journal subject:
Pediatrics
Year:
2007
Document type:
Article
Affiliation country:
Argentina
Institution/Affiliation country:
Complejo Sanitario San Luis/AR