Acquired erythropoietic uroporphyria associated with clonal cytopenia of undetermined significance

Swanson, Leah A.; Jóhannsson, Freyr; Tortorelli, Silvia; Yi, Cecilia Arana; Shah, Surbhi

doi:10.1016/j.jdcr.2022.11.034

Cited by 2 publications

(2 citation statements)

References 14 publications

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“…Several cases with symptoms consistent with late-onset CEP were diagnosed with MDS or myeloproliferative disorder. 33,[95][96][97][98] These patients did not have germline variants in UROS or GATA1 but had a CEP-like accumulation of isomer I porphyrins in the urine. This acquired erythropoietic uroporphyria (AEU) is caused by myelodysplastic cellular clones acquiring somatic UROS variants.…”

Section: Myeloid Malignancymentioning

confidence: 91%

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Congenital erythropoietic porphyria

To‐Figueras,

Erwin,

Aguilera

et al. 2024

Liver International

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Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease due to the deficient, but not absent, activity of uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthesis pathway. Biallelic variants in the UROS gene result in decreased UROS enzymatic activity and the accumulation of non‐physiologic Type I porphyrins in cells and fluids. Overproduced uroporphyrins in haematopoietic cells are released into the circulation and distributed to tissues, inducing primarily hematologic and dermatologic symptoms. The clinical manifestations vary in severity ranging from non‐immune hydrops fetalis in utero to mild dermatologic manifestations in adults. Here, the biochemical, molecular and clinical features of CEP as well as current and new treatment options, including the rescue of UROS enzyme activity by chaperones, are presented.

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Section: Myeloid Malignancymentioning

confidence: 91%

“…Several cases with symptoms consistent with late‐onset CEP were diagnosed with MDS or myeloproliferative disorder 33,95–98 . These patients did not have germline variants in UROS or GATA1 but had a CEP‐like accumulation of isomer I porphyrins in the urine.…”

Section: Rare Atypical Casesmentioning

confidence: 99%