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Abstract
Nephropathic cystinosis is a rare genetic disease characterized by accumulation of the amino acid cystine in lysosomes throughout the body. Growth retardation is a known complication of nephropathic cystinosis, the cause of impaired growth has not been definitively determined. This study was planned to assess growth in cystinosis and to identify the factors that might be contributing to this growth retardation. It included 21 patients with confirmed nephropathic cystinosis who were subjected to history, clinical examination focusing on anthropometric measurements as regards weight in (kg) and height in (cm) with the standard deviation score (SDS) at 0, 6 & 12 months of the study and the annual growth velocity SDS was also done, laboratory investigations including serum IGF-1, Zn, Se and thyroid functions and urinary iodine were also performed. Weight SDS at the start of the study was with mean -3.2 + 1.1 however at the end mean was -3 + 0.8, while height SDS at the start of our study was with mean -4.7 + 1.7 and at the end mean was -4.9 + 1.7. Mean annual growth velocity SDS was -2.9 + 1.4. Serum IGF-1 was found to be well below normal in 81% of the cases. We concluded that growth retardation in patients with nephropathic cystinosis is pronounced and seems to be multifactorial