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Recurrent respiratory infections in a child with fucosidosis: Is the mucus too thin for effective transport? by Dr. Bruce K. Rubin; Patrick M. Macleod; Jennifer Sturgess; Malcolm King is a Medicine article available to read on EtoBox.

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Fucosidosis is caused by a deficiency of the lysosomal enzyme alpha-L-fucosidase (ALF) leading to an accumulation of glycoproteins in a variety of cells. Infants and young children with this disorder are prone to recurrent sinus and pulmonary infections and often die of pneumonia. We studied the mucociliary and systemic immune function in a 6 year old girl with fucosidosis and recurrent respiratory infections. All measurements of systemic immune function were normal. Sweat chloride was normal when measured on angiokeratotic skin but was greater than 65 mg/L on uninvolved areas. During the placement of tympanic ventilation tubes, tracheal mucus was gently aspirated and a mucosal biopsy was taken. Tracheal mucus transport was not measured. The biopsy material was examined under phase contrast microscopy and revealed ciliated cells with apparently normal beating. TEM of these cells showed a characteristic pattern of vacuoles in the cytoplasm as described in other tissues from patients with fucosidosis. Ciliary ultrastructure was normal. Mucus viscoelasticity was measured in a magnetic microrheometer. The loss tangent was 2 SD above the mean for normal mucus and mechanical impedance wa

Who reads Recurrent respiratory infections in a child with fucosidosis: Is the mucus too thin for effective transport??

Author

Dr. Bruce K. Rubin; Patrick M. Macleod; Jennifer Sturgess; Malcolm King

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 8755-6863)

Published

1990

Language

EN

Field

Medicine (Health Sciences)