Nur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.
Herkunft und Zuordnung
FindZebra
Datensatz: fabry:21211675
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
HealthOSFallbibliothek
Fallbibliothek wird durchsucht …
13 angezeigte Datensätze · Seite 1 · Publikationszuordnung geprüft. Dieselbe Publikation kann in beiden Sammlungen vorkommen.
Nur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.
FindZebra
Datensatz: fabry:21211675
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Nur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.
FindZebra
Datensatz: gaucher:3408371
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Nur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.
FindZebra
Datensatz: fabry:18632784
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Introduction. Fabry disease is a rare X-linked lysosomal storage disorder, characterized by an α-galactosidase A deficiency resulting in globotriaosylceramide storage within cells. Subsequently, various organ systems are involved, clinically the most important are kidneys, the heart, and the peripheral and central nervous systems. Although obstructive lung disease is a common pathological finding in Fabry disease, pulmonary involvement is a clinically disregarded feature. Case Presentation. We report a patient with a diagnosis of chronic obstructive pulmonary disease (COPD) who received a single lung transplant in 2007. Later, a kidney biopsy revealed the diagnosis of Fabry disease, which was confirmed by enzymatic and genetic testing. Ultrastructural changes in a native lung biopsy were consistent with the diagnosis. Although the association of a lung transplant and Fabry disease appears far-fetched on first sight, respiratory impairment cannot be denied in Fabry disease. Conclusion. With this case presentation, we would like to stimulate discussion about rare differential diagnoses hidden beneath widespread disease and that a correct diagnosis is the base of an optimal treatment strategy for each patient. Overall, the patient might have benefited from specific enzyme replacement therapy, especially in view of the chronic kidney disease.
Auszug in der Originalsprache. Gaggl M, Kain R, Jaksch P, Haider D, Mundigler G, Voigtländer T, Sunder-Plassmann R, Rommer P, Klepetko W, Sunder-Plassmann G. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: fabry:23691425
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Nur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.
FindZebra
Datensatz: duchenne:11452178
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Nur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.
FindZebra
Datensatz: gaucher:7355669
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes. We describe the case of a 26-year-old European Caucasian man who had Fabry disease and who presented with episodic sudden unilateral hearing loss and was treated with glucocorticoids, pentoxifylline, hyperbaric oxygen, and fluoride because of concomitant audiometric evidence of otosclerosis. This case demonstrates the partial and transient beneficial effect of standard treatment for sudden hearing loss not related to Fabry disease and analyzes the possible connection between typical Fabry disease inner-ear lesions and otosclerosis. Whereas hearing loss has been described in connection with Fabry disease, otosclerosis-associated hearing loss in Fabry disease has not yet been described. Although progressive hearing loss in patients with Fabry disease seems to be influenced by replacement therapy, few data concerning treatment of sudden hearing loss are available. The lack of literature concerning the pathogenesis of the otological involvement in Fabry disease makes it impossible to identify a connection between the latter and otosclerosis. Therefore, this report may help to reinforce the importance of a thorough evaluation of hearing in patients with Fabry disease and may be of help with therapeutic decision-making.
Auszug in der Originalsprache. Felisati G, Salvatici E, Pipolo C, Portaleone S, Riva E, Giovannini M. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: fabry:22507244
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Fabry disease (FD) is a rare X-linked deficiency of lysosomal enzyme alpha-galactosidase (AGAL) resulting in accumulation of globotriaosylceramide (Gb-3) in the cells, with protean manifestations. Major organs affected are the kidneys, heart and nervous system. The diagnosis of FD is often delayed by many years. Enzyme replacement started early might reverse the organ damage while delayed initiation may only stabilize the disease progression. We describe a patient in whom involvement of different organs unfolded at different times and a detailed review of history by the clinician led to the diagnosis. The importance of electron microscopy (EM) of renal biopsy is highlighted. Patients with FD are often diagnosed late because the manifestations can be variable and spread over different time periods. Detailed history including family history and examining the renal biopsy by EM are crucial for early diagnosis.
Auszug in der Originalsprache. Jamboti J, Forrest CH. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: fabry:28975091
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Nur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.
FindZebra
Datensatz: fabry:3133979
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Nur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.
FindZebra
Datensatz: gaucher:24398657
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Fabry's disease is a rare X-linked genetic disorder characterized by reduced levels of the α-galactosidase A enzyme. It may present with a cardiac phenotype resembling hypertrophic cardiomyopathy. However, as a specific enzyme replacement therapy is available, it remains an important differential diagnoses in patients presenting with cardiac hypertrophy. In boys, onset has been reported in early childhood with complaints initially comprising neuropathic pain, reduced sweat production, and gastrointestinal symptoms. Later the cardiac, renal, and central nervous systems may become affected. Female mutation carriers may remain asymptomatic or present at a later age with varying symptoms and clinical manifestations due to random inactivation of the X chromosome in different organs. Here we present a case of Fabry's disease diagnosed in the daughter of an elderly, Caucasian woman (81 years old) with late-onset cardiac conduction disease and heart failure. We discuss the implications of cascade screening relatives of elderly probands. Irrespective of the patient's age, physicians must be on the lookout for phenocopies when identifying patients with possibly inheritable cardiomyopathies. The specific - precise - diagnosis may be crucial for the patient as well as the relatives.
Auszug in der Originalsprache. Hasselbalch RB, Madsen PL, Bundgaard H, Theilade J. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: fabry:27899143
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Background Gaucher disease (GD) is an autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase. The presence of central nervous system disease is a hallmark of the neuronopathic forms of GD (types 2 and 3). Intraocular lesions (e.g. corneal clouding, retinal lesions, and vitreous opacities) have been infrequently reported in GD type 3 (GD3). Moreover, there are virtually no published data on the occurrence and natural course of intraocular lesions in GD3 patients treated with enzyme replacement therapy (ERT). Case presentation We describe the case of a 26-year-old Polish male with L444P homozygous GD3 (mutation c.1448T > C in the GBA1 gene) who developed fundus lesions despite 10 years of ERT. At the age of 23 years, a spectral domain optical coherence tomography (OCT) examination was performed which disclosed the presence of discrete lesions located preretinally, intraretinally in the nerve fiber layer, and in the vitreous body. A 3-year follow-up OCT examination has not shown any significant progression of the fundus lesions. Conclusions To the best of our knowledge, this is the first published report describing the occurrence of newly identified retinal and preretinal lesions occurring during long-term ERT in GD3. We recommend that a careful ophthalmic assessment, including a dilated fundus examination, should be included as part of annual follow-up in patients with GD3. Further studies are needed to understand the nature and clinical course of these changes and whether or not these intraocular findings have any predictive value in the context of neurologic and skeletal progression in GD3.
Auszug in der Originalsprache. Sawicka-Gutaj N, Machaczka M, Kulińska-Niedziela I, Bernardczyk-Meller J, Gutaj P, Sowiński J, Ruchała M. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: gaucher:27064303
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations. We conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017. This article presents the findings in adult male patients. Clinical evidence for the efficacy of ERT in adult male patients was available from 166 publications including 36 clinical trial publications. ERT significantly decreases globotriaosylceramide levels in plasma, urine, and in different kidney, heart, and skin cell types, slows the decline in estimated glomerular filtration rate, and reduces/stabilizes left ventricular mass and cardiac wall thickness. ERT also improves nervous system, gastrointestinal, pain, and quality of life outcomes. ERT is a disease-specific treatment for patients with Fabry disease that may provide clinical benefits on several outcomes and organ systems. Better outcomes may be observed when treatment is started at an early age prior to the development of organ damage such as chronic kidney disease or cardiac fibrosis. Consolidated evidence suggests a dose effect. Data described in male patients, together with female and paediatric data, informs clinical practice and therapeutic goals for individualized treatment.
Auszug in der Originalsprache. Germain DP, Elliott PM, Falissard B, Fomin VV, Hilz MJ, Jovanovic A, Kantola I, Linhart A, Mignani R, Namdar M, Nowak A, Oliveira JP, Pieroni M, Viana-Baptista M, Wanner C, Spada M. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: fabry:30775256
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba