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2008, vol. 136, br. 5-6, str. 295-298
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Incidentalom nadbubrega kod bolesnice s neurofibromatozom tip 1
Adrenal incidentaloma in neurofibromatosis type 1
aKlinički centar Srbije, Klinika za endokrinologiju dijabetes i bolesti metabolizma, Beograd bUniverzitet u Beogradu, Medicinski fakultet, Institut za patološku anatomiju
e-adresa: gajtan@eunet.yu
Sažetak
Uvod Neurofibromatoza tip 1 je jedna od najčešćih naslednih bolesti s velikim brojem novih mutacija i širokim spektrom kliničkih manifestacija. Dijagnoza se postavlja na osnovu jasno definisanih kliničkih kriterijuma. Postojanje kožnih neurofibroma, odnosno pleksiformnog neurofibroma je patognomonično za ovu bolest. Incidencija feohromocitoma u neurofibromatozi tip 1 je 0,1-5,7%. Prikaz bolesnika Pedesetšestogodišnja bolesnica je primljena na ispitivanje zbog incidentaloma nadbubrega, dokazanog nalazom kompjuterizovane tomografije (CT) abdomena. Reč je o bolesnici s ranije neprepoznatom neurofibromatozom tip 1 i kliničkom slikom koja liči na feohromocitom. Nekoliko puta određivani kateholamini u 24-časovnom urinu nisu ukazivali na funkcionalno aktivni feohromocitom. Nivo hromogranina A je bio umereno povećan. Odluka o hirurškom lečenju je doneta posle pregleda magnetnom rezonancijom (MRI) abdomena, pri čemu su uočene morfološke i strukturne osobenosti feohromocitoma levog nadbubrega, što je potvrđeno pozitivnom scintigrafijom sa metajodbenzilgvanidinom (131I-MIBG). Posle preoperacione pripreme fenoksibenzaminom i propranololom bolesnica je operisana, a patohistološki nalaz je ukazao na feohromocitom levog nadbubrega. Zaključak Kod bolesnika s neurofibromatozom tip 1 i incidentalomom nadbubrega mora biti primenjen celokupni dijagnostički postupak za feohromocitom. Iako su feohromocitomi retki tumori, ishod može biti fatalan ako se blagovremeno ne prepozna i ne leči.
Abstract
INTRODUCTION Neurofibromatosis type 1 is one of the most common genetically transmitted diseases with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. It is diagnosed by the existence of certain clinical criteria. The presence of numerous localized cutaneous neurofibromas or a plexiform neurofibroma is virtually pathognomonic of neurofibromatosis type 1. The incidence of pheochromocytoma in neurofibromatosis type 1 is 0.1-5.7%. CASE OUTLINE A 56-year old female patient was admitted for further evaluation of incidental adrenal tumour previously diagnosed on computerized tomography (CT). She had previously unrecognized neurofibromatosis type 1 and a clinical picture which could remind of pheochromocytoma. None of the catecholamine samples in 24 hr urine indicated functionally active pheochromocytoma. Chromogranin A was moderately increased. Decision for operation was made after performing the image techniques. Adrenal incidentaloma had features of pheochromocytoma on abdominal magnetic resonance imaging (MRI), with positive 131I-MIBG (iodine 131-labelled metaiodobenzylguanidine scintigraphy). After being treated with phenoxybenzamine and propranolol, she was operated on. The pathohistological finding showed the case of left adrenal pheochromocytoma. CONCLUSION Detailed diagnostic procedure for pheochromocytoma should be performed with patients having neurofibromatosis type 1 and adrenal incidentaloma. Pheochromocytomas are rare tumours with fatal outcome if not duly recognized and cured.
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