Irkutsk, Irkutsk region, Russian Federation
Irkutsk, Irkutsk region, Russian Federation
Irkutsk, Irkutsk region, Russian Federation
Opisan klinicheskiy sluchay endogennogo giperkorticizma u 18-letnego pacienta s sindromom Icenko – Kushinga, obuslovlennym kortikosteromoy levogo nadpochechnika. Vypolnena laparoskopicheskaya adrenalektomiya. Issledovanie preparata vyyavilo pigmentnuyu nodulyarnuyu displaziyu nadpochechnika. Otmechen regress simptomov giperkorticizma, otsutstvie recidiva v techenie 2 let nablyudeniya. Retrospektivnyy analiz vyyavil redkoe nasledstvennoe zabolevanie – Karni-kompleks. Adrenalektomiya okazalas' effektivnoy, no veroyatnost' recidiva sohranyaetsya.
Karni-kompleks, pigmentnaya nodulyarnaya displaziya nadpochechnika, sindrom Icenko – Kushinga, giperkorticizm, istinnyy lentiginoz, autosomno-dominantnyy tip nasledovaniya
1. Orlova EM, Kareva MA. (2012). Carney complex - a syndrome of multiple endocrine neoplasias [Karni-kompleks - sindrom mnozhestvennykh endokrinnykh neoplaziy]. Problemy endokrinologii, (3), 22-30.
2. Orlova EM, Kareva MA, Zakharova EY, Polyakova GA, Poddubniy IV, Tolstov KN, Melikyan MA, Kalinchenko NY, Udalova NV, Peterkov VA. (2012) Three cases of Carney complex in children: clinical, molecular and genetic features of Carney complex in children (the first description in Russia) [Tri sluchaya Karni-kompleksa u detey: klinicheskie i molekulyarno-geneticheskie osobennosti Karni-kompleksa u detey (pervoe opisanie v Rossii)]. Problemy endokrinologii, (5), 50-56.
3. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. (1985). The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore), 64 (4), 270-283.
4. Carney JA, Hruska LS, Beauchamp GD, Gordon H. (1986). Dominant inheritance of the complex of myxomas, spotty pigmentation and endocrine overactivity. Mayo Clin. Proc., 61, 165-172.
5. Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA. (2000). Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat. Genet., 26, 89-92.
6. Sarlis NJ, Chrousos GP, Doppman JL, Carney JA, Stratakis CA. (1997).Primary pigmented nodular adrenocortical disease: reevaluation of a patient with Carney complex 27 years after unilateral adrenalectomy. J. Clin. Endocrinol. Metab., 82 (4), 1274-1278.
7. Stratakis CA, Kirshner LS, Carney JA. (2001). Clinical and molecular features of the Carney complex, diagnostic criteria and recommendations for patient evaluation. Clin. Endocrinol. Metab., 86 (9), 4041-4046.
