Öz
Kaynakça
- Pisani, B. Visciano, G.D. Roux, M. Sabbatini, C. Porto, G. Parenti, M. Imbriaco, Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. Mol Genet Metab. 2012;107:267–75.
- Van der Tol L, Cassiman D, Houge G. Uncertain diagnosis of Fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up. JIMD Rep. 2014;17:83–90.
- Pasqualim G, Simon L, Sperb-Ludwig F. Fabry disease: a new approach for the screening of females in high-risk groups. Clin Biochem. 2014;47:657–62.
- Yogasundaram H, Kim D, Oudit O, Thompson RB, Weidemann F, Oudit GY. Clinical features, diagnosis, and management of patients with Anderson-Fabry cardiomyopathy. Can J Cardiol. 2017,33:883–97.
- Rombach S, Dekker N, Bouwman M, Linthorst G, Zwinderman A, Wijburg F et al. Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta Mol Basis Dis. 2010,1802:741–8.
- Choi L, Vernon J, Kopach O, Minett M, Mills K et al. The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain. Neurosci Lett. 2015,594:163–68.
- Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
- Tojo K, Oota M, Honda H, Shibasaki T, Sakai O. Possible thyroidal involvement in a case of Fabry disease. Intern Med. 1994;33:172–76.
- Nistal M, Paniagua R, Picazo ML. Testicular and epididymal involvement in Fabry’s disease. J. Pathol. 1983;141:113–24.
- Faggiano A, Severino R, Ramundo V, Russo R, Vuolo L, Del Prete M et al. Thyroid function in Fabry disease before and after enzyme replacement therapy. Minerva Endocrinol. 2011;36:1-5.
- Faggiano A, Pisani A, Milone F, Gaccione M, Filippella M, Santoro A et al. Endocrine dysfunction in patients with Fabry disease. J Clin Endocrinol Metab. 2006;91:4319-25..
- Maione L, Tortora F, Modica R, Ramundo V. Pituitary function and morphology in Fabry disease. Endocrine. 2015;50:483-8
Öz
Fabry is a multisystemic disease mainly affecting heart, kidney, central nervous system and endocrine system with intralysosomal glycolipid accumulation. Although thyroid and adrenal gland involvement has been demonstrated in limited studies, glycolipid accumulation in the pituitary could not be exhibited. A 66-year-old female patient diagnosed with Fabry Disease revealed a low level of pituitary hormone levels. Moreover, an empty sella was found in pituitary MRI. We argued that pituitary function seems impaired due to Fabry Disease, and endocrine workup should be periodically performed in patients with Fabry Disease
Anahtar Kelimeler
fabry disease, pituitary disfunction, metabolic diseases , hypertension lysosomal storage disorder
Kaynakça
- Pisani, B. Visciano, G.D. Roux, M. Sabbatini, C. Porto, G. Parenti, M. Imbriaco, Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. Mol Genet Metab. 2012;107:267–75.
- Van der Tol L, Cassiman D, Houge G. Uncertain diagnosis of Fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up. JIMD Rep. 2014;17:83–90.
- Pasqualim G, Simon L, Sperb-Ludwig F. Fabry disease: a new approach for the screening of females in high-risk groups. Clin Biochem. 2014;47:657–62.
- Yogasundaram H, Kim D, Oudit O, Thompson RB, Weidemann F, Oudit GY. Clinical features, diagnosis, and management of patients with Anderson-Fabry cardiomyopathy. Can J Cardiol. 2017,33:883–97.
- Rombach S, Dekker N, Bouwman M, Linthorst G, Zwinderman A, Wijburg F et al. Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta Mol Basis Dis. 2010,1802:741–8.
- Choi L, Vernon J, Kopach O, Minett M, Mills K et al. The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain. Neurosci Lett. 2015,594:163–68.
- Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
- Tojo K, Oota M, Honda H, Shibasaki T, Sakai O. Possible thyroidal involvement in a case of Fabry disease. Intern Med. 1994;33:172–76.
- Nistal M, Paniagua R, Picazo ML. Testicular and epididymal involvement in Fabry’s disease. J. Pathol. 1983;141:113–24.
- Faggiano A, Severino R, Ramundo V, Russo R, Vuolo L, Del Prete M et al. Thyroid function in Fabry disease before and after enzyme replacement therapy. Minerva Endocrinol. 2011;36:1-5.
- Faggiano A, Pisani A, Milone F, Gaccione M, Filippella M, Santoro A et al. Endocrine dysfunction in patients with Fabry disease. J Clin Endocrinol Metab. 2006;91:4319-25..
- Maione L, Tortora F, Modica R, Ramundo V. Pituitary function and morphology in Fabry disease. Endocrine. 2015;50:483-8
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Klinik Tıp Bilimleri |
| Bölüm | Editöre Mektup |
| Yazarlar | |
| Erken Görünüm Tarihi | 11 Temmuz 2023 |
| Yayımlanma Tarihi | 2 Temmuz 2023 |
| Kabul Tarihi | 8 Şubat 2023 |
| Yayımlandığı Sayı | Yıl 2023 Cilt: 48 Sayı: 2 |
