scholarly journals Assessment of cardiac functions in pediatric patients with beta thalassemia major

2018 ◽  
Vol 7 (1) ◽  
pp. 47-51
Author(s):  
Onur Çaglar Acar ◽  
Serdar Epçaçan ◽  
İbrahim Ece ◽  
Abdurrahman Üner ◽  
Ahmet Faik Öner
Keyword(s):  
Pediatric Patients ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Beta Thalassemia Major ◽  
Cardiac Functions

Nephrolithiasis in Transfusion-Dependent Pediatric Patients

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 4895-4895
Author(s):  
Joanne Yacobovich ◽  
Irit Krause ◽  
Rotem Semo-Oz ◽  
Hannah Tamary
Keyword(s):  
Vitamin D ◽  
Pediatric Patients ◽  
Renal Stones ◽  
Thalassemia Major ◽  
Small Sample ◽  
Beta Thalassemia ◽  
Thalassemia Intermedia ◽  
Urine Calcium ◽  
Beta Thalassemia Major ◽  
Vitamin D Levels

Abstract Background: The prolonged survival in patients with beta thalassemia major and other transfusion dependent disorders has exposed the multi-organ effects of multiple transfusions and chelation therapy. Renal deficits were described with the focus on tubular and glomerular function. Nephrolithiasis has not been systematically explored in these patients. Contributing factors to stone formation may include hypercalcuria, abnormal vitamin D homeostasis, and proximal tubulopathy. Objective: We analyzed hematologic and nephrologic parameters of 22 transfusion- dependent pediatric patients to investigate contributors to nephrolithiasis. Methods: The study included patients with beta thalassemia major (TM) (13), transfusion-dependent beta thalassemia intermedia (TDTI) (4), Diamond-Blackfan anemia (DBA) (3), other transfusion-dependent hemoglobinopathies (2). Patients' ages were from 4-20 years (overall median -11 years, TM/TDTI median - 11.5, DBA median - 7.5 years). At the time of analysis 11 received iron chelation with deferasirox, 8 with combined desferoxamine & deferiprone, 2 with combined desferoxamine & deferasirox and one patient received desferoxamine alone. All patients had previously been treated with deferasirox alone and due to either significant adverse events or failure to control iron overload were switched to an alternate regimen. Seven patients were treated with vitamin D supplements for a median of 3 years (range: 0.2-4.3), 6 patients received vitamin D+calcium for a median of 4.5 years (range: 4.3-10). Venous blood samples, 24-hour urine collections and spot urine samples were collected to assess urine chemistry, vitamin D metabolism, electrolytes and renal function. Renal sonography and directed computerized tomography were used to diagnose nephrolithiasis/nephrocalcinosis. Results: Three patients, all with TM/TDTI, had symptomatic and radiographically identified renal stones, an additional TM patient had symptomatic nephrocalcinosis (Table 1). Among the entire cohort hypercalcuria was identified in 75% with increased Ca/Cr in 68%. 25(OH)D3 was abnormal in 81% of patients, mostly in the "insufficient" range (25-75 mmol/L). No significant relationship between presence of nephrolithiasis and chelation regimen, Ca mg/kg/d, Ca/Cr, renal fractional excretion (Fe) of phosphate (FePhos(, FeNa, FeUA, oxalate, cystein, citrate, 25(OH)D3, or treatment with vitamin D± calcium was identified, possibly in part due to the small sample size. Conclusions: The incidence rate of nephrolithiasis in our pediatric transfusion-dependent population was 1000x that published in various pediatric populations. Hypercalcuria and relatively low vitamin D levels were found in the majority of our patients, notably in all with nephrolithiasis. All 4 patients with nephrolithiasis/calcinosis were ≥ 13 years old, receiving vitamin D±calcium supplements and had received deferasirox chelation. Of note none of the patients not receiving vitamin D±calcium therapy presented with renal stones or calcinosis. The pathophysiology of nephrolithiasis/calcinosis is unclear among these adolescents; however the role of vitamin D±calcium supplemental therapy and the contribution of deferasirox must be further studied to find the proper formulation needed to maintain bone health without increasing the risk for renal stones. Abstract 4895. Table 1- Characteristics of patients with nephrolithiasis/nephrocalcinosis Patient Diagnoses Age at onset (years) Chelation (at onset) Duration of vitamin D+Ca supplement (years) Low vitamin D levels (mmol/L) Urine calcium (mg/kg/d) 1 TM/NL 16 DFX 2.3 + 7.6 2 TM/NL 16 DFX 5 - 6.9 3 TDTI/NL 13 DFO&DFP (prior DFX) 0.25 (vitamin D only) + 4.4 4 TM/NC 18 DFX 4 + 2.7 TM-thalassemia major, TDTI-transfusion-dependent thalassemia intermedia, NL-nephrolithiasis, NC-nephrocalcinosis, DFX-deferasirox, DFO-desferoxamine, DFP-deferiprone, Ca-calcium, normal values: vitamin D>75mmol/L, urine calcium<4mg/kg/d Disclosures No relevant conflicts of interest to declare.

A Prospective Study of Tubular Dysfunction in Pediatric Patients with Beta Thalassemia Major Receiving Deferasirox

2013 ◽  
Vol 30 (8) ◽  
pp. 748-754 ◽  
Author(s):  
Majid Naderi ◽  
Simin Sadeghi-Bojd ◽  
Ali Kord Valeshabad ◽  
Alireza Jahantigh ◽  
Shaban Alizadeh ◽  
...  
Keyword(s):  
Prospective Study ◽  
Pediatric Patients ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Tubular Dysfunction ◽  
Beta Thalassemia Major ◽  
A Prospective Study

scholarly journals Assessment of Subclinical Renal Glomerular and Tubular Dysfunction in Children with Beta Thalassemia Major

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 100
Author(s):  
Asmaa A. Mahmoud ◽  
Doaa M. Elian ◽  
Nahla MS. Abd El Hady ◽  
Heba M. Abdallah ◽  
Shimaa Abdelsattar ◽  
...  
Keyword(s):  
Cystatin C ◽  
Kidney Injury ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Good Survival ◽  
Control Group ◽  
Healthy Children ◽  
Serum Cystatin C ◽  
Serum Cystatin ◽  
Beta Thalassemia Major

Background: A good survival rate among patients with beta thalassemia major (beta-TM) has led to the appearance of an unrecognized renal disease. Therefore, we aimed to assess the role of serum cystatin-C as a promising marker for the detection of renal glomerular dysfunction and N-acetyl beta-D-glucosaminidase (NAG) and kidney injury molecule 1 (KIM-1) as potential markers for the detection of renal tubular injury in beta-TM children. Methods: This case-control study was implemented on 100 beta-TM children receiving regular blood transfusions and undergoing iron chelation therapy and 100 healthy children as a control group. Detailed histories of complete physical and clinical examinations were recorded. All subjected children underwent blood and urinary investigations. Results: There was a significant increase in serum cystatin-C (p < 0.001) and a significant decrease in eGFR in patients with beta-TM compared with controls (p = 0.01). There was a significant increase in urinary NAG, KIM-1, UNAG/Cr, and UKIM-1/Cr (p < 0.001) among thalassemic children, with a significant positive correlation between serum cystatin-C, NAG and KIM-1 as regards serum ferritin, creatinine, and urea among thalassemic patients. A negative correlation between serum cystatin-C and urinary markers with eGFR was noted. Conclusion: Serum cystatin-C is a good marker for detection of glomerular dysfunction. NAG and KIM-1 may have a predictive role in the detection of kidney injury in beta-TM children.

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