Thrombotic microangiopathy–like acute kidney injury revealing a germline GATA1 mutation in a child with inherited cytopenia

Faculty Medicine Year: 2026
Type of Publication: ZU Hosted Pages:
Authors:
Journal: Pediatric Nephrology Springer Berlin Heidelberg Volume:
Keywords : Thrombotic microangiopathy–like acute kidney injury revealing    
Abstract:
الوصف Thrombotic microangiopathy (TMA) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ injury, most commonly acute kidney injury (AKI). It may occur as a primary complement‑mediated disorder or secondary to other diseases. Germline mutations in GATA1 cause X‑linked thrombocytopenia with or without dyserythropoietic anemia. We report an 8‑year‑old boy with long‑standing steroid‑dependent cytopenias and congenital anomalies who presented with severe infection, hemolysis, thrombocytopenia, and AKI requiring hemodialysis. Although the presentation fulfilled criteria for suspected TMA, ADAMTS13 activity, complement factor H levels, and anti-factor H antibodies were normal, excluding primary TMA. Whole‑exome sequencing identified a hemizygous pathogenic GATA1 variant (c. 646C>
   
     
 
       

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