Dual pathogenic variants in ADAMTS13 and CFHR1/CFHR3 deletion: divergent thrombotic microangiopathy phenotypes in siblings.

Pediatr NephrolMay 11, 2026 (epub)
Case ReportHematologyMedical GeneticsOpen access

Mona Hamed Gehad, Doaa M Youssef, Amal S El-Shal et al.

✦ AI-curated · Sources linked

Case in brief

Two male siblings presented with hereditary anemia and thrombocytopenia, along with unexplained hepatosplenomegaly. The elder sibling developed acute thrombotic microangiopathy (TMA) with severe complications, while the younger sibling had predominantly hematological issues but maintained kidney function. Genetic testing revealed distinct pathogenic variants in ADAMTS13 and a deletion involving CFHR1/CFHR3, explaining their divergent clinical presentations.

Diagnostic / clinical pearl

This case illustrates the phenotypic variability in thrombotic microangiopathy syndromes, emphasizing the need for thorough genetic evaluation in patients with hereditary cytopenia.

Source

PubMed · PMID 42113272Free full text on PubMed Central

Published in Pediatr Nephrol. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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