Abstract
Passwell et al (J. Pediatr. 98:85, 1981) described the association of nephritis, deafness, and Fanconi syndrome in a 4 year old girl. We have cared for this girl (S. now 12 years) and her 9 month old sister (A.), and wish to describe this syndrome in more detail. Parents are first cousins and have a healthy son.
The following have occurred in both sisters: early onset nephritis PRTD, bilateral moderately-severe high frequency nerve deafness, pruritis, eczema, hepatoslenomegaly and osteopenia. Both are incapable of sustaining antibody responses to diphtheria and tetanus immunizations. In addition S. has recurrent infections, asthma, immunological abnormalities, and growth retardation and had vocal cord granulations. The immune dysfunction is characterized by low levels of IgG with low and unsustained antibody responses to diphtheria and tetanus immunization. There is skin test anergy despite generally normal in vitro parameters of cell-mediated immunity.
The renal and ear abnormalities are more severe in degree and have presented much earlier than is usual in Alports syndrome, especially for females. This unique constellation of findings is suggestive of an underlying biochemical defect. Mucopolysaccharides have been detected in skin and urine (S.) but this is equivocal.
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Kaplan, P., Reece, E. & Kaplan, B. FAMILIAL NEPHRITIS, PROXIMAL RENAL TUBULAR DYSFUNCTION (PRTD), DEAFNESS, PRURITIS, ECZEMA AND HEPATOSPLENOMEGALY: A NEW SYNDROME. Pediatr Res 21 (Suppl 4), 228 (1987). https://doi.org/10.1203/00006450-198704010-00373
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DOI: https://doi.org/10.1203/00006450-198704010-00373