Hereditary ADAMTS 13 deficiency presenting as recurrent acute kidney injury

Area of Science:

• Nephrology
• Hematology
• Genetics

Background:

• Thrombotic microangiopathies are rare disorders characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ damage.
• ADAMTS 13 deficiency is a known cause of thrombotic thrombocytopenic purpura, a type of thrombotic microangiopathy.

Observation:

• A 26-year-old male presented with recurrent acute renal failure, microangiopathic hemolytic anemia, and thrombocytopenia.
• The patient experienced eight episodes of acute kidney injury (AKI) before developing hypertension, proteinuria, and renal insufficiency.

Findings:

• Genetic analysis revealed a mutation in the ADAMTS 13 gene, confirming ADAMTS 13 deficiency as the underlying cause.
• Regular monthly plasma infusions successfully prevented further episodes of AKI and stabilized the patient's renal function.

Implications:

• This case highlights the importance of early diagnosis and management of ADAMTS 13 deficiency to prevent severe renal complications.
• Plasma infusion therapy is effective in managing ADAMTS 13 deficiency and preventing recurrent AKI.
• Angiotensin II receptor blockers can help manage hypertension and proteinuria in patients with renal insufficiency due to ADAMTS 13 deficiency.