Renal Complications in Thalassemia

Abstract

Thalassemia is a disease with an extensive morbidity profile affecting almost every organ system. Renal involvement, once considered rare, is an underestimated and poorly studied complication that has been on the rise ever since medical advances granted patients longer life spans. Several studies and reports have emerged recently to shed light on the seriousness of this complication, although data is still lacking in terms of pathophysiology, diagnosis, prevention and treatment. In this review, we evaluate and compare renal involvement in the transfusion-dependent and independent variants of β-Thalassemia, highlighting the pathophysiology of kidney damage that involves iron overload, chronic anemia, and iron chelation therapy. An in-depth and focused review of the types of injuries incurred is also presented along with the diagnostic biomarkers accompanying each type of injury. Most research so far has focused on the transfusion-dependent thalassemia population being the group with most renal involvement, however recent reports have shown evidence of comparable, if not worse, involvement of the non-transfusion dependent population, sometimes leading to end-stage renal disease. As such, we try to shed light on distinct renal involvements in NTDT whenever available.

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

“…Hypoxia and chronic anemia lead to oxidative stress and lipid peroxidation, resulting in tubular cell function impairment [ 6 ]. Moreover, iron overload has an important role in the pathogenesis of kidney injury in thalassemic patients [ 7 ]. In addition, iron chelator toxicity can result in glomerular dysfunction.…”

Evaluasi Fungsi Ginjal pada Penyandang Talasemia-β Mayor Anak

“…Disfungsi ginjal merupakan komplikasi jangka panjang yang harus diperhatikan pada penyandang talasemia, terutama dengan peningkatan rata-rata usia populasi ini. 1,12,13 Beberapa penelitian mengenai keterlibatan ginjal pada penyandang talasemia-β mayor dewasa telah dilaporkan, tetapi data pada anak belum banyak didapatkan. 3 Pada penelitian ditemukan kadar rata-rata kreatinin serum yang rendah 0,38 (0,08) mg/ dL, dan didapatkan 32% subjek berstatus nutrisi kurang serta stunted sebanyak 80%.…”

“…Endapan hemosiderin pada ginjal dapat menyebabkan nekrosis tubular, atrofi kortikal, dan fibrosis interstisial sehingga menimbulkan cedera ginjal akut dan kronis pada penyandang talasemia. 1,13 Penelitian pada 228 penyandang talasemia-β mayor dewasa berusia rata-rata 30,1±9,4 tahun menunjukkan adanya hemosiderosis ginjal pada 77,7% subyek penelitian yang ditunjukkan dengan hasil pemeriksaan magnetic resonance imaging (MRI). 15 Kelasi besi yang digunakan saat ini, yaitu deferipron, deferoksamin, dan deferasiroks.…”

“…Berton Juniper dkk: Evaluasi fungsi ginjal pada penyandang talasemia-β mayor T alasemia-β mayor memiliki profil morbiditas luas yang memengaruhi hampir setiap sistem organ. 1 Patofisiologi talasemia mayor mencakup 3 faktor utama, yaitu anemia kronis dan hemolisis, eritropoesis yang tidak efektif, kelebihan besi, dan toksisitas kelasi besi. 2 Tata laksana yang lebih baik bagi penyandang talasemia-β mayor berdampak peningkatan kelangsungan hidup, tetapi berisiko mengalami kelebihan besi pada berbagai organ, seperti hati, pankreas, dan jantung, terutama bila konsumsi kelasi besi tidak optimal.…”

“…Penyebab pasti disfungsi ginjal pada talasemia-β mayor belum diketahui sepenuhnya, tetapi dipastikan bahwa penyebabnya bersifat multifaktorial. [1][2][3] Saat ini, penanda kerusakan ginjal yang digunakan adalah kadar kreatinin serum. Pemeriksaan kreatinin tidak dapat digunakan untuk mendeteksi gangguan fungsi ginjal secara dini karena peningkatan kadar kreatinin serum mulai muncul ketika telah terjadi penurunan fungsi ginjal yang signifikan.…”