A recent study highlights a rare presentation of cystinosis characterized by masked Fanconi syndrome, early-onset hypothyroidism, and metabolic alkalosis. This discovery may enhance understanding of cystinosis and its varied manifestations.
masked fanconi syndrome a rare presentation of cystinosis with early onset hypothyroidism and metabolic alkalosis
Original title: “Masked Fanconi syndrome: a rare presentation of cystinosis with early-onset hypothyroidism and metabolic alkalosis.”