Coexistence of VHL Disease and CPT2 Deficiency: A Case Report / Journal of the Korean Cancer Association, 대한암학회지
Cancer Research and Treatment
;
: 1438-1442, 2016.
Artículo
en Inglés
| WPRIM
| ID: wpr-205892
ABSTRACT
von Hippel-Lindau (VHL) disease is an inherited syndrome manifesting with benign and malignant tumors. Deficiency of carnitine palmitoyltransferase type II (CPT2) is a disorder of lipid metabolism that, in the muscle form, manifests with recurrent attacks of myalgias often associated with myoglobinuria. Rhabdomyolytic episodes may be complicated by life-threatening events, including acute renal failure (ARF). We report on a male patient who was tested, at 10 years of age, for VHL disease because of family history of VHL. He was diagnosed with VHL but without VHL-related manifestation at the time of diagnosis. During childhood, the patient was hospitalized several times for diffuse muscular pain, muscle weakness, and dark urine. These recurrent attacks of rhabdomyolysis were never accompanied by ARF. The patient was found to be homozygous for the mutation p.S113L of the CPT2 gene. To the best of our knowledge, this is the first report of the coexistence of VHL disease and CPT2 deficiency in the same individual. Based on findings from animal models, the case illustrates that mutations in the VHL gene might protect against renal damage caused by CPT2 gene mutations.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Rabdomiólisis
/
Carnitina O-Palmitoiltransferasa
/
Modelos Animales
/
Diagnóstico
/
Metabolismo de los Lípidos
/
Lesión Renal Aguda
/
Mialgia
/
Enfermedad de von Hippel-Lindau
/
Mioglobinuria
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Cancer Research and Treatment
Año:
2016
Tipo del documento:
Artículo
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