ENFERMEDAD DE HURLER PDF

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Estudio prospectivo de 2 pacientes con enfermedad de Hurler (de 4,8 años y 17 meses de edad al inicio de la intervención) en tratamiento enzimático. Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1 ; see this term), a rare lysosomal storage disease, characterized by skeletal. La mucopolisacaridosis de tipo I (MPS I), es una enfermedad genética autosómica Palabras clave: mucopolisacaridosis, síndrome de Hurler, MPS I, trastorno.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Hurler syndrome is the most severe form enfermerad mucopolysaccharidosis type 1 MPS1; see this terma rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

Patients present within the first year of life with musculoskeletal alterations including short stature, dysostosis multiplex, thoracic-lumbar kyphosis, progressive coarsening of enfermddad facial features including large head with bulging frontal bones, depressed nasal bridge with broad nasal tip and anteverted nostrils, full cheeks and enlarged lipscardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.

Developmental delay is usually observed between 12 and 24 months of life and is primarily in the realm of speech with progressive enfemedad and sensorial deterioration. Hydrocephaly can occur after the age of two. Diffuse corneal compromise leading to corneal opacity becomes detectable from three years of age onwards. Other manifestations include organomegaly, hernias and hirsutism.

Hurler syndrome is caused by mutations in the IDUA gene 4p Early diagnosis enfermeadd difficult as the first clinical manifestations are not specific.

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Diagnosis is based on detection of increased urinary excretion of heparan and dermatan sulfate and confirmed by demonstration of enzymatic deficiency in leukocytes or fibroblasts.

Genetic testing is available. Differential diagnoses include the milder form of mucopolysaccharidosis type 1, the Hurler-Scheie syndrome see this termalthough this form is associated with only slight cognitive impairment.

Differential diagnoses also include mucopolysaccharidosis type 6 and type 2 and mucolipidosis type 2 see these terms. Antenatal diagnosis is possible by measurement of enzymatic activity in cultivated chorionic villus or amniocytes and by genetic testing if the disease-causing mutation is known.

Transmission is autosomal recessive. Genetic counseling and testing should be offered to couples with a positive family history.

OMIM Entry – # – HURLER SYNDROME

Hematopoietic stem cell transplantation HSCT is the treatment of choice for patients with Hurler syndrome under 2. HSCT should be performed early in the disease course, before developmental deterioration begins. Enzyme replacement therapy ERT with laronidase is recommended for all Hurler patients and is a lifelong therapy which alleviates non neurological symptoms. The early use of ERT has been shown to delay or even prevent the development of some of the clinical features of this condition.

Additional management of Hurler syndrome is largely supportive, and includes surgical interventions e. Patients often succumb to the condition in the first decade from respiratory and cardiac complications but ERT and HSCT can improve life expectancy.

Orphanet: Síndrome de Hurler

The timing of diagnosis, and therefore of treatment initiation, is an important factor for the success of both HSCT and laronidase. Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 MPS1; see this terma rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

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InfancyNeonatal ICD Clinical description Patients present within the first year of life with musculoskeletal alterations including short stature, dysostosis multiplex, thoracic-lumbar kyphosis, progressive coarsening of the facial features including large head with bulging frontal bones, depressed nasal bridge with broad nasal tip and anteverted nostrils, full cheeks and enlarged lipscardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.

Diagnostic methods Early diagnosis is difficult as the first clinical manifestations are not specific. Differential diagnosis Differential diagnoses include the milder form of mucopolysaccharidosis type 1, the Hurler-Scheie syndrome see this termalthough this form is associated with only slight cognitive impairment.

Antenatal diagnosis Antenatal diagnosis is possible by measurement of enzymatic activity in cultivated chorionic villus or amniocytes and by genetic testing if the disease-causing mutation is known.

Genetic counseling Transmission is autosomal recessive. Management and treatment Management is multidisciplinary.

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Prognosis Patients often succumb to the condition in the first decade from respiratory and cardiac complications but ERT and HSCT can improve life expectancy. Additional information Further information on this disease Classification s 8 Gene s 1 Clinical signs and symptoms Other website s 3. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 64 Orphan drug s 6.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes enfermedav. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.