Cargando…

Late-onset Hereditary ATTR Amyloidosis with a Novel p.P63S (P43S) Transthyretin Variant

The patient was an 82-year-old Japanese man with no family history suggestive of amyloidosis. He developed bilateral leg edema and shortness of breath and was referred to our hospital. An electrocardiogram showed atrial fibrillation with right bundle branch block. Echocardiography showed concentric...

Descripción completa

Detalles Bibliográficos
Autores principales:	Aono, Yuya, Hamatani, Yasuhiro, Katoh, Nagaaki, Nakagawa, Mayuko, Nakamura, Katsuya, Yazaki, Masahide, Kametani, Fuyuki, Iguchi, Moritake, Murakami, Ikuko, Ogawa, Hisashi, Abe, Mitsuru, Akao, Masaharu, Sekijima, Yoshiki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society of Internal Medicine 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7946494/ https://www.ncbi.nlm.nih.gov/pubmed/32999234 http://dx.doi.org/10.2169/internalmedicine.5615-20

Ejemplares similares

Transthyretin Variant Amyloidosis with a TTR A97D (p.A117D) Mutation Manifesting Remarkable Asymmetric Neuropathy
por: Ikeda, Kazuna, et al.
Publicado: (2022)

Giant Hepatomegaly with Spleno-testicular Enlargement in a Patient with Apolipoprotein A-I Amyloidosis: An Uncommon Type of Amyloidosis in Japan
por: Yoshinaga, Tsuneaki, et al.
Publicado: (2020)

The pathological and biochemical identification of possible seed‐lesions of transmitted transthyretin amyloidosis after domino liver transplantation
por: Yoshinaga, Tsuneaki, et al.
Publicado: (2016)

Hereditary Fibrinogen Aα-Chain Amyloidosis in Asia: Clinical and Molecular Characteristics
por: Yazaki, Masahide, et al.
Publicado: (2018)

Quality of life assessment in amyloid transthyretin (ATTR) amyloidosis
por: Aimo, Alberto, et al.
Publicado: (2021)

Hereditary ATTR Amyloidosis with Cardiomyopathy Caused by the Novel Variant Transthyretin Y114S (p.Y134S)
por: Nakase, Taku, et al.
Publicado: (2019)

Cardiac amyloidosis: diagnostic challenges and recent advancement in the treatment of transthyretin amyloidosis (ATTR)
por: Rahman, Tanvir, et al.
Publicado: (2021)

A Brief Journey through Protein Misfolding in Transthyretin Amyloidosis (ATTR Amyloidosis)
por: Gonzalez-Duarte, Alejandra, et al.
Publicado: (2021)

A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey
por: González-Moreno, Juan, et al.
Publicado: (2021)

Tafamidis for autonomic neuropathy in hereditary transthyretin (ATTR) amyloidosis: a review
por: Cruz, Márcia Waddington
Publicado: (2019)

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)
por: Brito, Dulce, et al.
Publicado: (2023)

Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review
por: Aldinc, Emre, et al.
Publicado: (2023)

Common transthyretin-derived amyloid fibril structures in patients with hereditary ATTR amyloidosis
por: Steinebrei, Maximilian, et al.
Publicado: (2023)

Nationwide Survey of 741 Patients with Systemic Amyloid Light-chain Amyloidosis in Japan
por: Shimazaki, Chihiro, et al.
Publicado: (2017)

Light and heavy chain deposition disease with focal amyloid deposition diagnosed with mass spectrometry: a case report
por: Shimamoto, Yuki, et al.
Publicado: (2023)

Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups
por: Rintell, David, et al.
Publicado: (2021)

AL amyloidosis with non-amyloid forming monoclonal immunoglobulin deposition; a case mimicking AHL amyloidosis
por: Manabe, Shun, et al.
Publicado: (2018)

Variation in amount of wild-type transthyretin in different fibril and tissue types in ATTR amyloidosis
por: Ihse, Elisabet, et al.
Publicado: (2010)

Phenotypic expressions of hereditary Transthyretin Ala97Ser related Amyloidosis (ATTR) in Taiwanese
por: Hsu, Hui-Ching, et al.
Publicado: (2017)

Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines
por: Benson, M D, et al.
Publicado: (2020)

In Vivo Quantification of Myocardial Amyloid Deposits in Patients with Suspected Transthyretin-Related Amyloidosis (ATTR)
por: Wollenweber, Tim, et al.
Publicado: (2020)

Strategies to improve the quality of life in patients with hereditary transthyretin amyloidosis (hATTR) and autonomic neuropathy
por: Gendre, Thierry, et al.
Publicado: (2019)

Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care
por: Luigetti, Marco, et al.
Publicado: (2020)

Bone scintigraphy imaging and transthyretin-related (ATTR) cardiac amyloidosis: New tricks from an old tool?
por: Duran, Jessica M., et al.
Publicado: (2022)

Quality of life in ATTR amyloidosis
por: Lane, Thirusha, et al.
Publicado: (2015)

Allele Specific Expression of the Transthyretin Gene in Swedish Patients with Hereditary Transthyretin Amyloidosis (ATTR V30M) Is Similar between the Two Alleles
por: Norgren, Nina, et al.
Publicado: (2012)

Cryo-EM structure of a transthyretin-derived amyloid fibril from a patient with hereditary ATTR amyloidosis
por: Schmidt, Matthias, et al.
Publicado: (2019)

Phase 3 Multicenter Study of Revusiran in Patients with Hereditary Transthyretin-Mediated (hATTR) Amyloidosis with Cardiomyopathy (ENDEAVOUR)
por: Judge, Daniel P., et al.
Publicado: (2020)

Practice of Hereditary ATTR Amyloidosis in Non-endemic Areas of Japan
por: Matsushima, Masaaki, et al.
Publicado: (2022)

Guidelines for genetic counselling in ATTR amyloidosis
por: Sequeiros, Jorge
Publicado: (2015)

Heart transplantation in hereditary ATTR amyloidosis
por: Slama, M
Publicado: (2015)

Diagnosis and Treatment of AL and ATTR Amyloidosis
por: Faiman, Beth, et al.
Publicado: (2021)

Ophtalmologic changes in transthyretin familial amyloid polyneuropathy (ATTR-FAP)
por: Ferreira, Natália
Publicado: (2015)

An optimized imaging protocol for [(99m)Tc]Tc-DPD scintigraphy and SPECT/CT quantification in cardiac transthyretin (ATTR) amyloidosis
por: Schatka, Imke, et al.
Publicado: (2021)

Unusual presentation of transthyretin (ATTR) cardiac amyloidosis: A case report of pruritus as a possible initial symptom and challenging diagnosis
por: Baghaee, Massood, et al.
Publicado: (2023)

Positron Emission Tomography (PET) utilizing Pittsburgh compound B (PIB) detects amyloid heart deposits in hereditary transthyretin amyloidosis (ATTR).
por: Pilebro, Björn, et al.
Publicado: (2015)

Patisiran Pharmacokinetics, Pharmacodynamics, and Exposure‐Response Analyses in the Phase 3 APOLLO Trial in Patients With Hereditary Transthyretin‐Mediated (hATTR) Amyloidosis
por: Zhang, Xiaoping, et al.
Publicado: (2019)

A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium
por: De Bleecker, Jan L., et al.
Publicado: (2023)

The Transthyretin Amyloidosis – Quality of Life (ATTR-QOL) Questionnaire: Development of a Conceptual Model and Disease-Specific Patient-Reported Outcome Measure
por: O’Connor, Meaghan, et al.
Publicado: (2023)

ATTR Amyloidosis: development of cardiac symptoms during 6 years of follow up in different ATTR-variants
por: Klaassen, Sebastiaan, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_e2125134mgc7v4pjiqaspddaf4