БОЛЕЗНЬ ФАБРИ С ПОРАЖЕНИЕМ ПОЧЕК С ПРОТЕИНУРИЕЙ И ГИПЕРТРОФИЧЕСКОЙ КАРДИОМИОПАТИЕЙ, ОШИБОЧНО ИНТЕРПРЕТИРОВАННАЯ КАК ХРОНИЧЕСКИЙ ГЛОМЕРУЛОНЕФРИТ ПРИ ПУРПУРЕ ШЕНЛЕЙНА-ГЕНОХА
- Авторы: Фомин ВВ1, Пулин АА1, Рамеев ВВ1, Седов ВП1, Мешков АД1, Рощупкина СВ1, Панасюк ВВ1, Козловская ЛВ1, Мухин НА1
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Учреждения:
- ГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФ
- Выпуск: № 5 (2010)
- Страницы: 70-78
- Раздел: Статьи
- URL: https://journals.eco-vector.com/2075-3594/article/view/245982
- ID: 245982
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В В Фомин
ГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФ
А А Пулин
ГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФ
В В Рамеев
ГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФ
В П Седов
ГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФ
А Д Мешков
ГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФ
С В Рощупкина
ГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФ
В В Панасюк
ГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФ
Л В Козловская
ГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФ
Н А Мухин
ГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФГОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития РФ
Список литературы
- Breunig F., Wanner C. Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy. J Nephrol 2008; 21(1): 32-37
- Eng C.M., Fletcher J., Wilcox W.R., et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007; 30(2): 184-192
- Eng C.M., Germain D.P., Banikazemi M., et al. Fabru disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006; 8(9): 539-548
- Hoffmann B., Schwarz M., Mehta A., Keshav S; Fabry Outcome Survey European Investigators. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin. Gastroenterol. Hepatol. 2007; 5(12): 1447-1453
- MacDermot K.D., Holmes A., Miners A. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J. Med. Genet. 2001; 38: 769-775
- Banikazemi M., Ullman T., Desnick R.J. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol. Genet. Metab. 2005; 85(4): 255-259
- Möhrenschlager M., Braun-Falco M., Ring J., Abeck D. Fabry disease: recognition and management of cutaneous manifestations. Am. J. Clin. Dermatol. 2003; 4(3): 189-196
- Zarate Y., Hopkin R.J. Fabry's disease. Lancet 2008; 372: 1427 - 1435
- Orteu C.H., Jansen T., Lidove O. et al. FOS Investigators. Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br. J. Dermatol. 2007; 157(2): 331-337
- Fauchais A.L., Prey S., Outara B., et al. Angiokeratoma regression in a Fabry disease after treatment with agalsidase-beta: clinical effectiveness marker? J. Eur. Acad. Dermatol. Venereol. 2010; 24(6): 737-738
- Cimaz R., Guillaume S., Hilz M.J. et al. Awareness of Fabry disease among rheumatologists-current status and perspectives. Clin. Rheumatol. 2010 Apr 15. [Epub ahead of print]
- Ries M., Moore D.F., Robinson C.J. et al. Quantative dysmorphology assessment in Fabry disease. Genet. Med. 2006; 8: 96-101
- Oqvist B., Brenner B.M., Olivieira J.P. et al. Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations. Nephrol. Dial. Transplant. 2009; 24: 1736 - 1743
- Schiffmann R., Warnock D.G.., Banikazemi M. et al. Fabry disease: progression of nepnropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol. Dial. Transplant. 2009; 24: 2102 - 2111
- Ortiz A., Oliviero J.P., Waldek S. et al. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol. Dial. Transplant. 2008; 23: 1600 - 1607
- Fogo A.B., Bostad L., Svarstad E. et al. Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISFGN). Nephrol. Dial. Transplant. 2010; 25(7): 2168-2177
- Giannini E.H., Mehta A.B., Hilz M.J. et al. A validated disease severity scoring system for Fabry disease. Mol. Genet. Metab. 2010; 99: 283 - 290
- Nakao S., Kodama C., Takenaka T. et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003; 64(3): 801-807
- Kotanko P., Kramar R., Devrnja D. et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J. Am. Soc. Nephrol. 2004; 15(5): 1323-1329
- Ichinose M., Nakayama M., Ohashi T. et al. Significance of screening for Fabry disease among male dialysis patients. Clin. Exp. Nephrol. 2005; 9(3): 228-232
- Tanaka M., Ohashi T., Kobayashi M. et al. Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. Clin. Nephrol. 2005; 64(4): 281-287
- Lucke T., Hoppner W., Schmidt E. et al. Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts. Mol. Genet. Metab. 2004; 82: 93 - 97
- Shen J.S., Meng X.L., Moore D.F. et al. Globotriasylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol. Genet. Metab. 2008; 95: 163 - 168
- Barbey F., Brakch N., Linhart A. et al. Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler. Thromb. Vasc. Biol. 2006; 26: 839 - 844
- Linhart A., Kampmann C., Zamorano C.J. et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry Outcome Survey. Eur. Heart J. 2007; 28: 1228 - 1235
- Monserrat L., Gimeno-Blanes J.R., Marín F. et al. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 2007; 50(25): 2399-2403
- Nakao S., Takenata T., Maeda M. et al. An atypical variant of Fabry's disease in men with left venticular hypertrophy. N. Engl. J. Med. 1995; 333: 288 - 293
- Sachdev B., Takenaka T., Maeda M. et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002; 105: 1407-1411
- Chimenti C., Pieroni M., Morgante E. et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cadiomyopathy. Circulation. 2004; 110: 1047 - 1053
- Ommen S.R., Nishimura R.A., Edwards W.D. Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy? Heart 2003; 89: 929 - 930
- Weidemann F., Linhart A., Monserrat L., Strotmann J. Cardiac challenges in patients with Fabry disease. Int. J. Cardiol. 2010; 141(1): 3-10
- Kampmann C., Linhart A., Baehner F. et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int. J. Cardiol. 2008; 130(3): 367-373
- Pierre-Louis B., Kumar A., Frishman W.H. Fabry disease. Cardiac manifestations and therapeutic options. Cardiol. Rev. 2009; 17: 31 - 35
- Kouris N.T., Kontogianni D.D., Pavlou M.T., Babalis D.K. Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement. Int. J. Cardiol. 2005; 99(2): 327-328
- Efthimiou J., McLelland J., Betteridge D.J. Short PR intervals and tachyarrhythmias in Fabry's disease. Postgrad. Med. J. 1986; 62(726): 285-287
- Hoigné P., Attenhofer Jost C.H., Duru F. et al. Simple criteria for differentiation of Fabry disease from amyloid heart disease and other causes of left ventricular hypertrophy. Int. J. Cardiol. 2006; 111(3): 413-422
- Joshi S.B., Ahmar W., Lee G., Aggarwal A. Fabry's disease presenting as ventricular tachycardia and left ventricular 'hypertrophy'. Eur. J. Echocardiogr. 2008; 9(5): 697-679
- Doi Y., Toda G., Yano K. Sisters with atypical Fabry's disease with complete atrioventricular block. Heart. 2003; 89(1): e2
- Ikari Y., Kuwako K., Yamaguchi T. Fabry's disease with complete atrioventricular block: histological evidence of involvement of the conduction system. Br. Heart J. 1992; 68(3): 323-325
- Ikari Y., Kuwako K., Yamaguchi T. Fabry's disease with complete atrioventricular block: histological evidence of involvement of the conduction system. Br. Heart J. 1992; 68(3): 323-325
- Благова О.В., Заклязьминская Е.В., Недоступ А.В. и др. Случай болезни Фабри глазами кардиолога и генетика. Кардиология 2009; 5: 54-58
- Shah J.S., Hughes D.A., Sachdev B. et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am. J. Cardiol. 2005; 96(6): 842-846
- Sims K., Politei J., Banikazemi M., Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke. 2009; 40(3): 788-794
- Rolfs A., Böttcher T., Zschiesche M. et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005; 366(9499): 1794-1796
- Vibert D., Blaser B., Ozdoba C., Häusler R. Fabry's disease: otoneurologic findings in twelve members of one family. Ann. Otol. Rhinol. Laryngol. 2006; 115(6): 412-418
- Germain D.P., Avan P., Chassaing A., Bonfils P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med. Genet. 2002; 3: 10
- Conti G., Sergi B. Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous females. Acta Paediatr. Suppl. 2003; 92(443): 33-37
- Cimaz R., Guillaume S., Hilz M.J. et al. Awareness of Fabry disease among rheumatologists - current status and perspectives. Clin. Rheumatol. 2010 [Epub ahead of print]
- Schaefer R.M., Tylki-Szymanska A., Hilz M.J. Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs 2009; 69(16): 2179 - 2205
- Wilcox W.R., Banikazemi M., Guffon N. et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am. J. Hum. Genet. 2007; 75: 65 - 74
- Germain D.P., Waldek S., Banikazemi M., et al. Sustained, long-term renal stabilization after 54 moths of agalsidase β therapy in patients with Fabry disease. J. Am. Soc. Nephrol. 2007; 18: 1547 - 1557
- Banikazemi M., Bultas J., Waldeck S. et al. Agalsidase-beta therapy for advanced Fabry disease. A randomized trial. Ann. Intern. Med. 2007; 146: 77 - 86
- Wraith J.E., Tylki-Szymanska A., Guffon N. et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J. Pediatr. 2008; 152: 563 - 570
- Watt T., Burlina A.P., Cazzorla C. et al. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry. Genet Med. 2010 Sep 29. [Epub ahead of print]
- Imbriaco M., Pisani A., Spinelli L. et al. Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study. Heart. 2009; 95(13): 1103-1107
- Spinelli L., Pisani A., Sabbatini M. et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease. Clin. Genet. 2004; 66(2): 158-165
- Weidemann F., Niemann M., Breunig F. et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation. 2009; 119(4): 524-529
- Tahir H., Jackson L.L., Warnock D.G. Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J. Am. Soc. Nephrol. 2007; 18(9): 2609-2617
- Ortiz A., Oliveira J.P., Wanner C. et al. Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults. Nat. Clin. Pract. Nephrol. 2008; 4(6): 327-336