Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
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.
['Ferrara|Alfonso Massimiliano|AM|', 'Sciacco|Monica|M|', 'Zovato|Stefania|S|', 'Rizzati|Silvia|S|', 'Colombo|Irene|I|', 'Boaretto|Francesca|F|', 'Moggio|Maurizio|M|', 'Opocher|Giuseppe|G|']
D002334:Carnitine O-Palmitoyltransferase D002648:Child D006720:Homozygote D006801:Humans D008297:Male D008661:Metabolism, Inborn Errors D009154:Mutation D051437:Renal Insufficiency D051794:Von Hippel-Lindau Tumor Suppressor Protein D006623:von Hippel-Lindau Disease
Carnitine palmitoyltransferase type II Rhabdomyolysis Acute kidney injury Neoplasms von Hippel-Lindau disease