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Cystinosis in the Federal Republic of Germany. Coordination and analysis of the data
Author(s) -
Manz F.,
Gretz N.
Publication year - 1985
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805472
Subject(s) - cystinosis , pediatrics , medicine , incidence (geometry) , renal replacement therapy , cystine , chemistry , biochemistry , physics , cysteine , optics , enzyme
In our survey, 101 infants and children with cystinosis were registered in the Federal Republic of Germany. Ninety‐five patients showed the infantile type of cystinosis, five the adolescent type and one possibly the adult type. The minimum incidence rate of infantile and adolescent cystinosis in the FRG was 1 patient per 179 000 live‐births. In contrast to other countries, cystinotic patients were evenly distributed in the FRG. Patients with cystinosis originated more frequently from rural communities than from large cities. Before 1968 most patients died before reaching terminal renal failure, usually due to uncontrolled disturbances of water and electrolyte metabolism. Since 1976 the causes of death other than uraemia have been rare and most patients with terminal renal failure have entered a renal replacement program.