Exp Clin Transplant. 2026 Jul;24(Suppl 2):425-427. doi: 10.6002/ect.MESOT2025.P71.
ABSTRACT
Niemann-Pick disease is a rare autosomal recessive lysosomal storage disorder caused by acid sphingomyelinase deficiency, leading to sphingomyelin accumulation in multiple organs. Type B is considered the less severe form and is typically characterized by visceral involvement, whereas renal manifestations are exceptionally reported. We describe the case of a 36-year-old White male patient with Niemann-Pick disease type B who developed end-stage renal disease secondary to uncommon renal involvement. Kidney biopsy demonstrated foamy podocytes and vacuolated tubular epithelial cells consistent with changes related to Niemann-Pick disease, associated with focal segmental glomerulosclerosis of the collapsing variant and severe vascular lesions compatible with thrombotic microangiopathy. The patient was treated with conventional hemodialysis and remained clinically stable after 7 years of follow-up. Given the absence of neurological impairment and well-controlled systemic involvement, a comprehensive pretransplant evaluation was performed. Despite the multiorgan nature of Niemann-Pick disease type B and potential cardiovascular risks, the patient was considered eligible for kidney transplant and was placed on the waiting list. This case highlights the rarity of renal involvement in Niemann-Pick disease type B and emphasizes the need for individualized assessment when considering kidney transplant in patients with lysosomal storage disorders.
PMID:42538717 | DOI:10.6002/ect.MESOT2025.P71