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ADAMTS-13 deficiency: can it cause chronic renal failure?
Kate Bramham1, Rachel Hilton, Catherine Horsfield
1Maternal and Fetal Research Unit, King's College London, London, UK.
Summary
A disintegrin and metalloprotease, with thrombospondin-1-like domains (ADAMTS-13) deficiency can cause chronic kidney disease (CKD) in adults. This case highlights congenital thrombotic thrombocytopaenic purpura presenting late with kidney complications.
Area of Science:
- Nephrology
- Hematology
- Genetics
Background:
- Progressive chronic kidney disease (CKD) in adults necessitates investigating underlying causes.
- Thrombotic microangiopathy (TMA) is a serious condition affecting small blood vessels.
Observation:
- A 45-year-old woman presented with CKD, macrocytic anemia, and TMA on renal biopsy.
- Laboratory tests revealed deficiency in 'A disintegrin and metalloprotease, with thrombospondin-1-like domains' (ADAMTS-13).
Findings:
- Genotyping identified single-nucleotide polymorphisms linked to reduced ADAMTS-13 secretion and activity.
- Congenital thrombotic thrombocytopaenic purpura (TTP) was diagnosed, unusually presenting late with no neurological symptoms.
Implications:
- ADAMTS-13 deficiency should be considered in CKD patients with TMA features on biopsy.
- This case expands the clinical spectrum of congenital TTP, emphasizing late-onset presentations.
- Understanding genetic predispositions to ADAMTS-13 deficiency is crucial for diagnosing and managing TTP and related kidney diseases.
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