الفهرس 
Sickle Cell DiseaseOnly 14 pages are availabe for public view
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Abstract
Sickle cell disease (SCD) is an autosomal recessive genetic
disorder. SCD is one of the most common inherited life-threatening
disorders in human, it predominantly affect people of African, Indiana
and Arab ancestry. Renal Syndromes Associated with Sickle Cell
Disease: 1-Hematuria: it as painless and self-limiting 2- Defective
Concentrating Ability present as enuresis or nocturia 3- Renal Tubular
Acidosis 4- Proximal Tubular Function Disorders 5-Glomerular
Function Disorders 6-Hyperfiltration 7- Microalbuminuria 8- Acute
and chronic Kidney Injury.
Biomarkers for Early Detection of SCN:
*Albuminuria
In children with SCD, the elevation of the urine
albumin/creatinine ratio is the most studied renal outcome. Moreover,
the urine albumin/creatinine ratio is a routine test used to monitor
renal function alterations in children with SCD.
*Serum nephrin: transmembrane glycoprotein plays essential
role as barrier for plasma proteins.Serum nephrin shedding used
asmarker in renal damage.
Diagnosis: The complete blood count (CBC) is a primary test
to characterize the different types of anemia, Peripheral Blood Smear,
Solubility Sickling Test also use. Hemoglobin Electrophoresis is
considered the most important in diagnosis.
Treatment: Hydroxyurea or hydroxycarbamide (HU) is the only
drug approved for SCD by the US Food and Drug Administration.
Chronic blood transfusion and also novel therapies: voxelator and
glutamine are used.
Patients and methods:-
This study is conducted on 60 sickle cell disease and 30
apparently healthy children age, sex and matched as control from
Hematology unit, pediatric department, Menoufia university
hospital,their age from(2-18) years.
Full history (personal, present, past and family history
especially age, sex, consanguinity, crises, pallor, splenectomy) and
clinical examination.
Laboratory investigations (CBC, serum urea, creatinine, ALT,
AST, HB electrophoresis, serum ferritin,uric acid Serum nephrin
detection by ELISA, Microalbuminuria).
Results:
As regard socio-demographic characteristics of the studied
group, Consanguinity was significantly high in cases group, while
there was no significant difference between cases and controls
regarding age and sex.
On the basis of hematological investigations, the present study
showed: Mean hemoglobin, HCT, MCV, MCH were significantly
lower in cases than controls, while Serum ferritin, ALT, AST, Urea
and Creatinine were significantly higher in cases than controls.
Regarding to parameters of electrophoresis in our study: HbA1
was significantly lower in cases than controls, while HbA2 was
significantly higher in cases than controls. Both HbF and HbS were
found in cases only.
Serum nephrin was significantly higher in cases than controls
(P value 0.001). Microalbuminuria level was significantly higher in
cases than controls (P value 0.001).