Thrombotic microangiopathy triggered by podocytopathy

Area of Science:

• Nephrology
• Hematology
• Rare Diseases

Background:

• Thrombotic microangiopathy (TMA) is a rare condition involving hemolytic anemia, thrombocytopenia, and organ damage, classified as primary or secondary.
• This report focuses on a rare instance of secondary TMA associated with a primary glomerular disease.

Purpose of the Study:

• To report a unique case of thrombotic microangiopathy (TMA) in a patient with primary glomerular disease.
• To discuss the diagnostic and therapeutic challenges in managing coexisting TMA and resistant nephrotic syndrome.

Main Methods:

• Clinical case presentation of a 31-year-old male with nephrotic syndrome and gastrointestinal bleeding.
• Diagnostic workup included laboratory tests (hemolysis, kidney function, complement studies), ADAMTS13 activity, and kidney biopsy.
• Treatment involved plasmapheresis, followed by immunosuppressive therapy including prednisolone, MMF, rituximab, and tacrolimus.

Main Results:

• The patient presented with nephrotic syndrome, kidney function deterioration, and microangiopathic hemolytic anemia.
• Genetic evaluation revealed CFH-H3 homozygosity and impaired alternative complement pathway function.
• Plasmapheresis led to resolution of hemolysis and renal function recovery; however, the nephrotic syndrome was resistant to multiple therapies, achieving only partial remission with tacrolimus.

Conclusions:

• Atypical hemolytic uremic syndrome (a form of TMA) can occur secondary to glomerular diseases, presenting complex management scenarios.
• This case underscores the difficulties in treating resistant glomerulopathies with coexisting TMA and highlights the impact of therapeutic choices on kidney outcomes.