Déficit de glicerol kinasa en el adulto: hipertrigliceridemia resistente a tratamiento dietético y farmacológico / Glycerol kinase deficiency in adult patient: hypertriglyceridemia resistance to diet and pharmacological treatment
Nutr. hosp
; 35(4): 993-995, jul.-ago. 2018.
Article
in Spanish
| IBECS
| ID: ibc-179896
Responsible library:
ES1.1
Localization: BNCS
RESUMEN
Caso clínico presentamos un paciente varón de 85 años con polidipsia, poliuria e hipertrigliceridemia severa de 27 años de evolución, sin pancreatitis, persistente y resistente a tratamientos dietético y farmacológico. Se diagnosticó de hiperglicerolemia por déficit de glicerol kinasa (GKD) en base a suero transparente no lipémico, aumento de glicerol en plasma y orina, sin aumento de glicerol 3 fosfato y deleción, no descrita previamente, en el gen de la glicerol kinasa. Discusión:
un tratamiento dietético correcto con comidas frecuentes y rico en carbohidratos complejos, sin medicación, mejoró la sintomatologíaABSTRACT
Case report we present an 85-year-old patient with polydipsia, polyuria and severe hypertriglyceridemia of 27 years of evolution, without pancreatitis, resistant to dietary and pharmacological treatments. He was diagnosed of hyperglycerolemia due to glycerol kinase defi ciency (GKD) based on transparent non-lipemic serum, with glycerol increase in plasma and urine, without glycerol 3 phosphate increase, and a deletion, not previously described, in the glycerol kinase gene. Discussion:
a correct dietary treatment with frequent meals and rich in complex carbohydrates, without medication, improved the symptomatology
Full text:
Available
Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Hypertriglyceridemia
/
Glycerol Kinase
Limits:
Aged
/
Humans
/
Male
Language:
Spanish
Journal:
Nutr. hosp
Year:
2018
Document type:
Article
Institution/Affiliation country:
Centro de referencia nacional en enfermedades metabólicas congénitas (CSUR)/España
/
Hospital Universitario Reina Sofía/España