Doenças do armazenamento lisossomal hereditárias comuns
Summary
Definition
History and exam
Key diagnostic factors
- presença de fatores de risco
- História familiar
- início na infância (MPS, doenças de Pompe, Gaucher, Fabry, Niemann-Pick do tipo A)
- início na adolescência (doenças de Fabry, Pompe, Gaucher dos tipos 1 e 3, mucopolissacaridose, Niemann-Pick dos tipos B e C)
- início na idade adulta (doenças de Fabry, Gaucher do tipo 1 e Pompe)
- hepatomegalia e/ou esplenomegalia
- hiperacusia
- história de insuficiência renal
- erupções/lesões cutâneas
- perímetro cefálico grande
- "mancha vermelho-cereja" macular na oftalmoscopia
- atrofia óptica ou retinite pigmentosa na oftalmoscopia
- opacificação da córnea na oftalmoscopia
- fadiga
Other diagnostic factors
- atraso no neurodesenvolvimento
- comprometimento da audição/surdez súbita
- catarata na oftalmoscopia
- distúrbios da motilidade ocular
- demência progressiva e ataxia ou distúrbio da marcha
- retardo do crescimento pôndero-estatural
- contratura articular
- depressão
- anormalidades esqueléticas, incluindo deformidade espinhal
- hidrocefalia
- história de infecções recorrentes do trato respiratório
- psicose
- distúrbios do movimento
- acidente vascular cerebral prematuro/ataque isquêmico transitório
- cardiomegalia
- valvopatia cardíaca
Risk factors
- sexo masculino (mucopolissacaridose [MPS] II, doença de Fabry)
- etnia asquenaze
Diagnostic tests
1st tests to order
- ensaio enzimático
- ensaio de substrato
- análise do ácido desoxirribonucleico (DNA)
- Hemograma completo
Tests to consider
- eletrocardiograma (ECG)
- ecocardiograma
- testes de função pulmonar
- biópsia da medula óssea
- biópsia muscular
- TC/RNM do órgão aumentado (doença de Gaucher)
- ultrassonografia/RNM (Fabry)
- TC/radiografia (mucopolissacaridose)
Treatment algorithm
Doença de Gaucher do tipo 1
doença de Gaucher do tipo 2
doença de Gaucher do tipo 3
Doença de Fabry
mucopolissacaridose (MPS)
Doença de Pompe
doença de Tay-Sachs
Doença de Niemann-Pick
Contributors
Authors
Atul B. Mehta, MA, MB BChir, MD, FRCP, FRCPath
Consultant Haematologist
Emeritus Professor in Haematology
University College London
London
UK
Disclosures
ABM has participated in educational activities for Sanofi Genzyme, Takeda and Amicus including advisory boards for which he has received honoraria and travel grants. He has also received research funding from Sanofi Genzyme, Takeda and Amicus. He is also an author of a number of references cited in this topic.
Peer reviewers
Gregory M. Pastores, MD
Associate Professor
Departments of Neurology and Pediatrics
NYU School of Medicine
New York
NY
Disclosures
GMP declares that he has no competing interests.
Uma Ramaswami, MD, FRCPCH
Consultant Paediatrician
Paediatric Metabolic Unit
Cambridge University Hospitals
Cambridge
UK
Disclosures
UR has received travel grants, honoraria for lectures, and funding for clinical trials from Shire HGT, Genzyme, and Actelion.
Elmer V. Villanueva, MD, ScM, FRIPH
Associate Professor of Public Health
Director of Research
Gippsland Medical School
Monash University
Churchill
Australia
Disclosures
EVV declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017 Feb 17;18(2):441.Full text Abstract
Patterson MC, Clayton P, Gissen P, et al. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: an update. Neurol Clin Pract. 2017 Dec;7(6):499-511.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Histiocitose de células de Langerhans (diagnóstico diferencial da doença de Gaucher dos tipos 2 e 3)
- Febre reumática (diagnóstico diferencial da doença de Fabry)
- Endocardite bacteriana (diagnóstico diferencial da doença de Fabry)
More DifferentialsGuidelines
- Pegunigalsidase alfa for treating Fabry disease
- Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)
More Guidelines
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