Fallbibliothek

Publizierte Fallberichte und weitere Publikationen aus FindZebra und PMOA-TTS mit überprüfter Zuordnung zur Originalquelle. Die Einträge zählen Publikationen und Datensätze, keine einzelnen Patientinnen und Patienten.„Publikationszuordnung geprüft“ bedeutet einen Abgleich bibliografischer Angaben. Es ist keine medizinische Prüfung der Aussagen oder Behandlungsempfehlung.Ungeklärte Zuordnungen und Einträge mit Korrekturhinweisen sind hier ausgeblendet. Originaltexte erscheinen nur bei dokumentierter Wiederverwendungslizenz; andere Treffer führen zur Publikation.

5 angezeigte Datensätze · Seite 1 · Publikationszuordnung geprüft. Dieselbe Publikation kann in beiden Sammlungen vorkommen.

[Uveitis masquerade syndrome in Gaucher disease. Causal treatment by alglucerase substitution therapy]. ↗FindZebra · Publikationszuordnung geprüft · 1998-12-01PMID 10048015 · DOI 10.1055/s-2008-1035003Publikationstyp: Journal Article, Case Reports

Nur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.

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Datensatz: gaucher:10048015
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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A single lung transplant in a patient with fabry disease: causality or far-fetched? A case report. ↗FindZebra · Publikationszuordnung geprüft · 2013-04-07PMID 23691425 · PMC3638525 · DOI 10.1155/2013/905743Publikationstyp: research-article, Journal Article

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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.

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Datensatz: fabry:23691425
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Fabry's disease and psychosis: causality or coincidence? ↗FindZebra · Publikationszuordnung geprüft · 2011-03-17PMID 21412034 · DOI 10.1159/000322794Publikationstyp: Journal Article, Case Reports

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Datensatz: fabry:21412034
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Nine year follow-up of a rare case of angioedema due to acquired C1-inhibitor deficiency with late onset and good response to attenuated androgen. ↗FindZebra · Publikationszuordnung geprüft · 2018-10-25PMID 30386386 · PMC6201569 · DOI 10.1186/s13223-018-0274-5Publikationstyp: Journal Article, Case Reports, case-report

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Angioedema due to acquired deficiency of C1-inhibitor (C1-INH-AAE) is a rare disease sharing some clinical and laboratory similarities with hereditary angioedema, but with late onset and no positive family history. The underlining cause may be malignant or due to autoimmune diseases, but some cases remain idiopathic. We report a case of a 75 year old woman suffering from recurrent episodes of angioedema since the age of 66, considered first induced by treatment with angiotensin-converting-enzyme inhibitors (ACEI). She continued to have angioedema attacks during 6 years after discontinuation of ACEI, until evaluation in our clinic in 2014, when C1 inhibitor esterase (C1-INH) deficiency was confirmed. The extended medical evaluation for inflammatory, allergic, autoimmune and neoplasic diseases was negative. C1-INH and complement fraction C4 plasma levels were significantly decreased at all measurements, but no diagnostic criteria for diseases known to induce C1-INH deficiency could be found. We first initiated daily prophylactic treatment with tranexamic acid, with no amelioration after 3 months. During the last and most severe attack, with the first facial and laryngeal edema, we have switched to attenuated androgen danazol. The evolution was very good, with prompt remission of angioedema and significant increase of C1-INH and C4 plasma levels after 2 weeks of daily danazol use. She completed 3 years of continuous treatment with low daily maintenance dose of danazol (ongoing), with no angioedema attack. We closely monitored C1-INH and C4 plasma levels, possible danazol side effects and any signs suggesting late onset of C1-INH deficiency causal disease. We reported a particular case of rare angioedema due to acquired deficiency of C1-inhibitor, which has no clear cause after long follow-up, but good response to attenuated androgen. We concluded that the awareness of angioedema due to C1-INH deficiency should be increased within medical community and therapeutic optio

Auszug in der Originalsprache. Leru PM, Anton VF, Bumbea H. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

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Datensatz: hae:30386386
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy. ↗FindZebra · Publikationszuordnung geprüft · 2014-07-18PMID 24961278 · DOI 10.1111/ctr.12408Publikationstyp: Journal Article, Case Reports

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Datensatz: fabry:24961278
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Fallbibliothek wird durchsucht …

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Auszug in der Originalsprache. Leru PM, Anton VF, Bumbea H. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

Herkunft und Zuordnung

FindZebra
Datensatz: hae:30386386
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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