Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

Hasanoğlu, Alev; Balwani, Manisha; Kasapkara, Çiğdem Seher; Ezgu, Fatih Süheyl; Okur, İlyas; Tümer, Leyla; Çakmak, Alpay; Nazarenko, Irina; Yu, Chunli; Clavero, Sonia; Bishop, David F.; Desnick, Robert J.

doi:10.1007/s10545-010-9237-9

Cited by 22 publications

(14 citation statements)

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“…It should be appreciated that there is some overlap, as patients with the acute hepatic porphyrias, hereditary coproporphyria (HCP), and variegate porphyria (VP) may have cutaneous lesions, and the rare homozygous dominant forms of acute intermittent porphyria (AIP), HCP, and VP, as well as the rare homozygous recessive form of PCT, hepatoerythropoietic porphyria, have erythropoietic manifestations. [9][10][11][12] The acute hepatic porphyrias…”

Section: Advances In the Porphyrias 4497mentioning

confidence: 99%

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The porphyrias: advances in diagnosis and treatment

Balwani

Desnick

2012

Blood

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219

240

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The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic disorders that can be classified as "acute hepatic," "hepatic cutaneous," and "erythropoietic cutaneous" diseases. Recent advances in understanding their pathogenesis and molecular genetic heterogeneity have led to improved diagnosis and treatment. These advances include DNA-based diagnoses for all the porphyrias, new understanding of the pathogenesis of the acute hepatic porphyrias, identification of the iron overloadinduced inhibitor of hepatic uroporphyrin decarboxylase activity that causes the most common porphyria, porphyria cutanea tarda, the identification of an X-linked form of erythropoietic protoporphyria due to gain-of-function mutations in erythroidspecific 5-aminolevulinate synthase (ALAS2), and new and experimental treatments for the erythropoietic prophyrias. Knowledge of these advances is relevant for hematologists because they administer the hematin infusions to treat the acute attacks in patients with the acute hepatic porphyrias, perform the chronic phlebotomies to reduce the iron overload and clear the dermatologic lesions in porphyria cutanea tarda, and diagnose and treat the erythropoietic porphyrias, including chronic erythrocyte transfusions, bone marrow or hematopoietic stem cell transplants, and experimental pharmacologic chaperone and stem cell gene therapies for congenital erythropoietic protoporphyria. These developments are reviewed to update hematologists on the latest advances in these diverse disorders. (Blood. 2012;120(23):4496-4504)

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Section: Advances In the Porphyrias 4497mentioning

confidence: 99%

“…9,12 In addition, there have been no genome wide association studies or exomic/genomic sequencing efforts to identify the modifying or predisposing genes in the patients who have chronic or frequent attacks. Mutation analysis is available for diagnosis of each porphyria (Mount Sinai Porphyria Diagnostic Laboratory; 866-322-7963).…”

Section: Diagnosismentioning

confidence: 99%

The porphyrias: advances in diagnosis and treatment

Balwani

Desnick

2012

Blood

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219

240

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“…j A variant of HCP is harderoporphyria, with 13 known mutations. 40 k High prevalence in South Africa (founder effect). 148 l After the discovery of XLP in 2008, up to 10% of EPP cases were reallocated to XLP.…”

Section: August 2019mentioning

confidence: 99%

“…The cause is a dysfunctional homozygous mutation or a null allele in exon 6 of the CPOX gene. 40 Although in HCP, mutations occur in the same gene, the CPOX mutation that causes harderoporphyria does not produce abdominal or neurologic symptoms as in HCP. 41,42 A subgroup of patients without clinical symptoms but high urinary ALA, PBG, and porphyrin levels have been classified as asymptomatic high excreters.…”

Section: Clinical Presentationmentioning

confidence: 99%

Clinical Guide and Update on Porphyrias

Stölzel¹,

Doss²,

Schuppan³

2019

Gastroenterology

129

158

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Physicians should be aware of porphyrias, which could be responsible for unexplained gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity, most porphyrias can be easily defined and diagnosed. They are caused by well-characterized enzyme defects in the complex heme biosynthetic pathway and are divided into categories of acute vs non-acute or hepatic vs erythropoietic porphyrias. Acute hepatic porphyrias (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and aminolevulinic acid dehydratase deficient porphyria) manifest in attacks and are characterized by overproduction of porphyrin precursors, producing often serious abdominal, psychiatric, neurologic, or cardiovascular symptoms. Patients with variegate porphyria and hereditary coproporphyria can present with skin photosensitivity. Diagnosis relies on measurement of increased urinary 5-aminolevulinic acid (in patients with aminolevulinic acid dehydratase deficient porphyria) or increased 5-aminolevulinic acid and porphobilinogen (in patients with other acute porphyrias). Management of attacks requires intensive care, strict avoidance of porphyrinogenic drugs and other precipitating factors, caloric support, and often heme therapy. The non-acute porphyrias are porphyria cutanea tarda, erythropoietic protoporphyria, X-linked protoporphyria, and the rare congenital erythropoietic porphyria. They lead to the accumulation of porphyrins that cause skin photosensitivity and occasionally severe liver damage. Secondary elevated urinary or blood porphyrins can occur in patients without porphyria, for example, in liver diseases, or iron deficiency. Increases in porphyrin precursors and porphyrins are also found in patients with lead intoxication. Patients with porphyria cutanea tarda benefit from iron depletion, hydroxychloroquine therapy, and, if applicable, elimination of the hepatitis C virus. An a-melanocytestimulating hormone analogue can reduce sunlight sensitivity in patients with erythropoietic protoporphyria or Xlinked protoporphyria. Strategies to address dysregulated or dysfunctional steps within the heme biosynthetic pathway are in development.

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“…Ima sličnu kliničku sliku kao PHAI, osim pridružene kožne fotosenzitivnosti kod oko 30% obolelih [7,8].…”

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