Pfaundler-hurler diseaseE76.0

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Hurler M.; Hurler-Pfaundler disease; Iduronidase deficiency; M. Hurler; Mucopolysaccharidose Type I-S/H; Mucopolysaccharidosis type I-H

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HistoryThis section has been translated automatically.

Hurler, 1919; Pfaundler, 1920

DefinitionThis section has been translated automatically.

Hereditary mucopolysaccharidosis inherited through a defect of the enzyme α-iduronidase.

Occurrence/EpidemiologyThis section has been translated automatically.

  • Incidence (all mucopolysaccharidoses): 3-4/100,000 inhabitants/year.
  • Incidence (Pfaundler-Hurler disease): about 1/100,000 inhabitants/year.

EtiopathogenesisThis section has been translated automatically.

Autosomal recessive mutations of the α-iduronidase gene (gene locus: 4p16.3). Due to the α-iduronidase defect, dermatan sulphate (= chondroitin sulphate B) and heparan sulphate are deposited lysosomally in the skin and in internal organs.

ManifestationThis section has been translated automatically.

First year of life.

Clinical featuresThis section has been translated automatically.

  • Integument: Hypertrichosis on the face, deep set hair on the head, bushy prominent eyebrows, occasional hirsutism and acne.
  • Extracutaneous manifestations: growth disorders, joint contractures, bone dysplasia, gargoylism, corneal opacities and hepatomegaly.

TherapyThis section has been translated automatically.

Symptomatic therapy of the cutaneous symptomatology. If necessary, long-term substitution with laronidase (e.g. Aldurazyme, available from international pharmacies) for the treatment of non-neurological symptoms.

LiteratureThis section has been translated automatically.

  1. Hurler G (1919) About a type of multiple varieties, mainly on the skeletal system. Z Pediatrics (Berlin) 24: 220-234
  2. Kakavanos R et al (2003) Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. Lancet 361: 1608-1613
  3. Kakkis ED et al (2001) Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 344: 182-188
  4. Pfaundler M (1920) Demonstrations on a type of childhood dysostosis. Yearbook for pediatrics and physical education (Berlin) 92: 420

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer