By performing regular blood transfusion and iron chelation therapy, most patients with beta thalassemia major (BTM) now survive beyond the third decade of life. Liver disease is becoming an important cause of morbidity and mortality in these patients. Chronic hepatitis and/or severe iron overload are both important causes of liver pathology. Iron chelation with desferrioxamine (DFO) reduces excessive body iron, but its efficacy is limited by poor compliance and dose related toxicity. The recent use of Deferasirox ( DFX ), an oral single dose therapy, has improved the compliance to chelation.AimsTo study the long-term liver functions in BMT patients, seronegative for liver infections before versus after DFX treatment in relation to ferritin level.MethodsOnly BTM patients with hepatitis negative screening (checked every year) and on treatment with DFO for at least five years and with DFX for four years were enrolled. Liver function tests including serum bilirubin, alanine transferase (ALT), aspartate transferase (AST), albumin, insulin-like growth factor – I (IGF-I) and serum ferritin concentrations were followed every six months in 40 patients with BTM.ResultsDFX treatment (20 mg/kg/day) significantly decreased serum ferritin level in patients with BTM; this was associated with a significant decrease in serum ALT, AST, ALP and increase in IGF-I concentrations. Albumin concentrations did not change after DFX treatment. ALT and AST levels were correlated significantly with serum ferritin concentrations ( r = 0.45 and 0.33 respectively, p < 0.05). IGF-I concentrations were correlated significantly with serum ALT (r= 0.26, p = 0.05) but not with AST, ALP, bilirubin or albumin levels.The negative correlation between serum ferritin concentrations and ALT suggests that the impairment of hepatic function negatively affect IGF-I synthesis in these patients due to iron toxicity, even in the absence of hepatitis.ConclusionsSome impairment of liver function can occur in hepatitis negative thalassemic patients with iron overload. The use of DFX was associated with mild but significant reduction of ALT, AST and ALP and increase in IGF-I levels. The negative correlation between IGF-I and ALT concentrations suggest that preventing hepatic dysfunction may improve the growth potential in these patients.

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chromosome 10p and monosomy 15q26.3->qter which contains the region coding for IGF1R. IGF-1(243 mg/L) and IGFBP-3 (3501 ng/ml) levels were markedly elevated; +4.7 SDS and +3.3 SDS respectively. The marked elevation in IGF-1 levels was considered a relative contraindication to GH therapy. Discussion Haploinsufficency of IGF1R gene is associated with elevated levels of IGF-1 as a result of target organ resistance. Exogenous growth hormone, while further elevating IGF-1, in many cases facilitates catch-up growth albeit to a lesser extent than other ex-SGA infants. In this case IGF-1 levels were exceptionally high, precluding growth hormone therapy. Conclusion Deletions involving the IGF1R gene are a rare but treatable cause of short stature. This case is unusual however, as marked elevation of IGF-1 at baseline precluded GH therapy. Goal To study the growth hormone (GH) and insulin-like growth factor (IGF-1, IGFBP-3) secretion in genetically determined types of short stature (GDSS) in Uzbekistan. Materials and methods We examined 92 patients with GDSS [11 -Russel-Silver syndrome (RSS), 16 -Noonan syndrome (NS), 10 -Sekkel syndrome (SS), 9 -Prader-Willi syndrome (PWS), 8 -Cornelius de Lange syndrome (CLS), 38 girls with TS] at the age of 7-18. A level of GH, IGF-1, IGFBP-3, anthropometry (SDS) was studied. Results Stunting of various degrees of expression was observed in all patients with GDSS but it was most expressed in patients with RSS (-5.16 ± 1.18 SDS), SS (-4.18 ± 1.12 SDS) and CLS (-6.10 ± 1.14 SDS). A reliably low level of GH vs. the control was found in patients with CLS (0.64 ± 0.05 ng/ml, p < 0.05), RSS (0.7 ± 0.04 ng/ml, p < 0.05), SS (1.02 ± 0.07 ng/ml, p < 0.05) on the background of a low level of IGF-1 and IGFBP-3. Patients with NS, TS and PWS had a level of GH within the lower limit norm, 12 girls with TS had a GH level which was reliably low (0.04 ± 0.05 ng/ml, p < 0.05) but IGF-1 and IGFBP-3 rates corresponded to the lower limit of the age norm. Conclusions In Uzbek patients with GDSS pronounced stunting was found in patients with RSS, SS and CLS which was associated with disturbances of a direct and reverse relation in the GH-IGF-IGFBP-3 system. A low GH level and relative deficiency of IGF-1 and IGFBP-3 in girls with TS was related with disturbances in the pituitary-ovarian system. Rickets is a disease in on growing bones due to precipitate disorders of calcium (Ca) and phosphor (P) in matrix of growth plate before epiphysial closing. Different types for rashitism including nutritional, hypophosphatemic and vitamin-D dependent rickets) VDDR). VDDR is a result of severe vitamin D deficiency that had tow subtype: PO-0070 PO-0071A) type -1(VDDR-1) because of defect of 1-alfa-hydroxilase enzyme.B) type -2(VDDR-2) because of mutation in intracellular vitamin-D receptor (VDR) associated with some especial symptoms like alopesia (global head hair loss) and short stature. this disease needs to high dose of vitamin-D analogues also calcium complement. although response to treatment is variable. Cases Int...

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Eliciting proper family medical history is critical in decreasing morbidity and mortality in patients with primary immunodeficiency disorders (PIDs). Communities with a common practice of consanguinity have a high rate of PIDs. We are presenting 2 cases where digging deeply into the family medical history resulted in the diagnosis of Omenn syndrome, a possibly fatal entity if not managed in a reasonable period.