Alternate Name: De Toni-Fanconi-Debni Syndrome Cystinosis
Test:
U.phosphate (H), U.protein (+), WCC (cystinecrystals in leucocytes), U.glucose (+), P.cystine (VH), S.pH (L), S.urate (H), S.phosphate (L), S.potassium (L)
Sign:
Dd:
Congenital metabolic disorders, Wilson's dis-ease, nephrotic syn., multiple myeloma, amyloidosis
Phys:
Syndrome that occurs with proximal renal tubular dysfunction. Commonly due to cystine storage disease, but many other disease entities may produce this syndrome
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