TY  - BOOK
AU  - Rasha Helmy Mohamed Mohamed Elgendi 
AU  - Hanan Abdelaziz Ahmed , 
AU  - Lobna Ahmed Anas Malek Fwaz , 
AU  - Neveen Abdelmonem Soliman , 
TI  - Serum IGF-1as a screening tool for growth retardation in patients with nephropathic cystinosis / 
PY  - 2016///
CY  - Cairo : 
PB  - Rasha Helmy Mohamed Mohamed Elgendi , 
KW  - IGF-1
KW  - Nephropathic cystinosis
KW  - Renal fanconi syndrome
N1  - Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics; Issued also as CD
N2  - 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
ER  -