Subclinical nephrotoxicity in patients with beta-thalassemia: role of urinary kidney injury molecule.

We aimed to investigate the role of urinary kidney injury molecule-1 (KIM-1) in detection of subclinical nephrotoxicity in patients with Beta-thalassemia (ß-TM) in relation to chelation therapy and to correlate the urinary KIM-1 level with other clinical and laboratory findings. We conducted a cross-sectional study on 66 thalassemic patients. Their ages range from 7 to 22 years. Routine kidney indices and novel urinary KIM/creatinine ratio (UKIM-1/Cr) were measured. Estimated glomerular filtration rate (eGFR) was calculated. Results indicate that the level of serum creatinine was significantly higher in patients on deferasirox therapy than patients on deferoxamine and deferiprone therapy [median(IQR), 0.85(0.63-0.99), 0.50(0.34-0.58) and 0.44(0.36-0.45)] mg/dL, respectively, p < 0.001]. The median(IQR) level of eGFR was significantly lower in patients on deferasirox therapy than patients on deferoxamine and deferiprone therapy [63.3(56.5-92.1), 117.3(91.9-162) and 136.7(109.4-157.6)] ml/min/1.73 m2, respectively, p < 0.001]. The mean level of UKIM-1/Cr was significantly higher in patients on deferasirox therapy than patients on deferoxamine and deferiprone therapy (7.0 ± 1.9, 4.1 ± 1.7 and 4.2 ± 1.5) ng/mg creatinine, respectively, p < 0.001). We concluded that urinary KIM-1 is an early predictive biomarker for decline in eGFR in patients with ß-TM on deferasirox therapy. The appropriate chelation therapy and good monitoring of those patients are intensely needed for early detection of renal dysfunction and timely intervention.

Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study.

In beta thalassemia, the degree of globin chain imbalance is determined by the nature of the mutation of the ß-gene. ß° refers to the complete absence of production of ß-globin on the affected allele. ß+ refers to alleles with some residual production of ß-globin. The homozygous state results in severe anemia that necessitates regular blood transfusion. On the other hand, frequent blood transfusion can lead to iron overload resulting in progressive dysfunction of the heart, Liver as well as multiple endocrinopathies. We studied the impact of genotype on the development of disease complications in patients with ß thalassemia. A Cross sectional study was carried on 73 patients with beta thalassemia. Genotyping was determined by DNA sequencing technique. Routine investigations as well as MRI liver and heart were performed to assess iron overload. We found that ß+ß+ was the most common genotype in our patients followed by ß°ß° and ß°ß+. Mean Liver iron content (LIC) was significantly higher in ß°ß° compared to ß°ß+ and ß+ß+ genotypes and mean cardiac T2* was significantly lower in ß°ß° compared to ß°ß+ and ß+ß+ genotypes. Hepatic complications, hepatitis C, cardiac complications and some endocrinopathies were significantly higher in patients with ß°ß° genotype compared to other genotypes which explain the role of the underlying genetic defect in thalassemia patients in development of disease complications.