Infantile nephropatic cystinosis in Denmark
Ebbesen, F.; Mygind, K.I.; Holck, F.
Danish Medical Bulletin 23(5): 216-222
1976
ISSN/ISBN: 0907-8916 PMID: 975942 Document Number: 106301
The case histories of 9 more children with nephropathic cystinosis are reported. Symptoms appeared at 5 to 12 months old and were complete Fanconi syndrome with vitamin D-resistant rickets, retarded growth, hypopigmentation, photophobia and clinical signs of rickets. In 3 patients there was peripheral retinopathy. Treatment was symptomatic with large amounts of vitamin D and an alkalising supplement to correct electrolytes. A diet low in cystine and methionine with anabolic steroid apparently had no effect on the progress of the disorder in 4 children. Cystine crystals were detected in all organs, especially in the reticulo-endothelial system. There was severe atrophy of renal tubuli; glomeruli were normal in some but totally sclerotic in others. Interstitial fibrosis was also seen. Incidence of the disorder in Denmark was 0.9/100 000 live births.