페이지 정보작성자 Felipe Maynard 작성일22-09-23 14:09 조회20회 댓글0건
Al glands (phaeochromocytoma) in abdominal computed tomographyThe patient has been receiving hydrocortisone replacement therapy. Due to a suspicion of the hereditary form of phaeochromocytoma in the patient, a genetic test was carried out. It showed a mutation in the VHL ex.1 p.Y112 C gene responsible for the hereditary form of phaeochromocytoma and confirming von Hippel-Lindau syndrome. A further genetic test was prescribed to PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/11011031 detect hereditary syndromes with the phaeochromocytoma component in other family members. Currently, 20 months after the surgery, the patient feels good and does not report any alarming symptoms. Measurements of arterial tension and the heart rate carried out at home show normal results. Follow-up abdominal and thyroid ultrasonography is normal; isotopic analysis performed 8 months after the surgery (131- I MIBG scintigraphy) did not reveal any regions of abnormal accumulation of the tracer. The level of catecholamines and methoxycatecholamines Carbonic Anhydrase 1, Human (His) in the control 24-h urine collection was normal (Table 1). Ophthalmic examinationsConclusion Recent data from the National Health and Nutrition Survey indicates that 10 of children and adolescents suffer from prehypertension and 4 have hypertension [41,45?6]. Pheochromocytomas occur in about 0.05 to 0.1 of patients with sustained hypertension. Pheochromocytoma is a rare, secondary cause of juvenile hypertension which usually occurs since the age of 10 years. Recommendations for the early diagnosis of hypertension in childhood involve screening for hypertension in all children over the age of 3 at every visit and ordering laboratory evaluation, echocardiography, and renovascular imaging for all children given a diagnosis of hypertension . Up to 20 of pheochromocytomas are diagnosed in children. Most of them are functional tumors, and clinical presentation includes symptoms related to catecholamine hypersecretion andr tumor mass effect. Increasingly, pheochromocytomas are identified during presymptomatic screening in children with genetic syndromes: multiple endocrine neoplasia type 2, von Hippel-Lindau disease, and the paraganglioma syndromes . The case presented in this case study shows the complexity of VHL syndrome which causes diagnostic difficulties. The first visible sign of the disease is arterial hypertension, which should be diagnosed by a physician during prophylactic investigations, otherwise it may lead to complications. The diagnosis of tumours typical of VHL syndrome, especially in a paediatric patient, necessitates more comprehensive diagnostics and application of genetic tests in the patient and family members as well as intensive supervision of carriers of the mutated gene. This approach facilitates early diagnosis of tumour lesions and frequently successful treatment thereof.Table 1 Catecholamines and their metabolites in patients with VHL syndrome before and after surgical treatment of phaeochromocytomaBefore surgical treatment Metanephrins in 24-hour urine collection Adrenalin in 24-hour urine collection Noradrenalin in 24-hour urine collection Dopamin in 24-hour urine collection Adrenalin in serum Noradrenalin in serum 76 >5000,0 2.68 45,6 4047,0 2,68 81,7 3105,3 643,8 58 >5000,0 After surgical treatment 0,30 9,0 18,8 448,6 x x Norm ranges <1 1,3-14,5 8,3-51,1 75,2-433,8 30,0-90,0 165,0-460,0 Units mg/24 h g/24 h g/24 h g/24 h ng/l ng/lKozaczuk and Ben-Skowronek Italian Journal of Pediatrics (2015) 41:Page 6 ofConsent Written informed.