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Porphyria

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https://www.readbyqxmd.com/read/28220410/an-audit-of-the-use-of-gonadorelin-analogues-to-prevent-recurrent-acute-symptoms-in-patients-with-acute-porphyria-in-the-united-kingdom
#1
Danja Schulenburg-Brand, Tricia Gardiner, Simon Guppy, David C Rees, Penelope Stein, Julian Barth, M Felicity Stewart, Michael Badminton
Severe recurrent acute attacks of porphyria have traditionally been treated with either prophylactic human haemin or gonadorelin analogues (GnA) in females. Evidence on the most effective treatment for this patient subgroup is lacking. This audit surveyed the use of prophylactic GnA in the UK.Twenty female patients (who experienced between 2 and 45 acute attacks of porphyria requiring hospitalisation and treatment with human haemin prior to GnA prophylaxis) were included in the audit. Data was retrospectively collected based on patient history and case review...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28210512/porphyria-cutanea-tarda-in-a-patient-with-end-stage-renal-disease-a-case-of-successful-treatment-with-deferoxamine-and-ferric-carboxymaltose
#2
Natacha Rodrigues, Fernando Caeiro, Alice Santana, Teresa Mendes, Leonor Lopes
Porphyria cutanea tarda (PCT) is a rare disease, with a strong association with hepatitis C virus. PCT is particularly problematic in end-stage renal disease patients as they have no renal excretion of porphyrins and these are poorly dialyzed. Also, conventional treatment of PCT is compromised in these patients as hydroxychloroquine is contraindicated, phlebotomies with the stipulated frequency are poorly tolerated in already anaemia-prone patients, and iron-chelating agents are less efficient in removing iron and contribute to worsening anaemia...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/28193754/author-response-acute-intermittent-porphyria-related-leukoencephalopathy
#3
Marjo S van der Knaap, Sietske H Kevelam
No abstract text is available yet for this article.
February 14, 2017: Neurology
https://www.readbyqxmd.com/read/28193753/letter-re-acute-intermittent-porphyria-related-leukoencephalopathy
#4
Wladimir B V R Pinto, Paulo Victor Sgobbi de Souza, Thiago Bortholin, Marco Antonio Troccoli Chieia, Acary S B Oliveira
No abstract text is available yet for this article.
February 14, 2017: Neurology
https://www.readbyqxmd.com/read/28143953/hemolytic-anemia-repressed-hepcidin-level-without-hepatocyte-iron-overload-lesson-from-g%C3%A3-nther-disease-model
#5
Sarah Millot, Constance Delaby, Boualem Moulouel, Thibaud Lefebvre, Nathalie Pilard, Nicolas Ducrot, Cécile Ged, Philippe Lettéron, Lucia de Franceschi, Jean Charles Deybach, Carole Beaumont, Laurent Gouya, Hubert De Verneuil, Saïd Lyoumi, Hervé Puy, Zoubida Karim
Hemolysis occurring in hematologic diseases is often associated with an iron loading anemia. This iron overload is the result of a massive outflow of hemoglobin into the bloodstream, but the mechanism of hemoglobin handling has not been fully elucidated. Here, in a congenital erythropoietic porphyria mouse model, we evaluate the impact of hemolysis and regenerative anemia on hepcidin synthesis and iron metabolism. Hemolysis was confirmed by a complete drop in haptoglobin, hemopexin and increased plasma lactate dehydrogenase, an increased red blood cell distribution width and osmotic fragility, a reduced half-life of red blood cells, and increased expression of heme oxygenase 1...
February 2017: Haematologica
https://www.readbyqxmd.com/read/28133909/anti-hcv-for-porphyria-cutanea-tarda
#6
Ayman Abdelmaksoud
No abstract text is available yet for this article.
January 30, 2017: Dermatologic Therapy
https://www.readbyqxmd.com/read/28130583/a-case-of-porphyria-cutanea-tarda-of-the-liver-exhibiting-multifocal-macrovesicular-steatosis-in-the-background-of-microvesicular-steatosis-probably-caused-by-uneven-iron-accumulation
#7
Marie Nishiyama, Keiko Sakamoto, Yoshinobu Shinagawa, Ayako Morita, Hiroshi Urakawa, Ritsuko Fujimitsu, Hiroshi Shakado, Yoshihiro Hamada, Kengo Yoshimitsu
A 61-year-old man with chronic hepatitis B and a history of alcohol overconsumption was admitted to our hospital for the scrutiny of multiple echogenic liver nodules. CT and hepatobiliary phase of gadoxetate-enhanced MR imaging revealed no nodular lesions. Quantitative fat fraction images and R2* map of MR imaging suggested homogeneous steatosis and uneven iron deposition in the liver, namely moderately and severely elevated R2* values at the nodules and surrounding background liver, respectively. Biopsy specimens showed macrovesicular fatty liver and less iron deposition at the echogenic nodules, and microvesicular fatty change and more prominent iron deposition at the surrounding liver tissue...
January 27, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/28129844/studying-disorders-of-vertebrate-iron-and-heme-metabolism-using-zebrafish
#8
Lisa N van der Vorm, Barry H Paw
Iron is a crucial component of heme- and iron-sulfur clusters, involved in vital cellular functions such as oxygen transport, DNA synthesis, and respiration. Both excess and insufficient levels of iron and heme-precursors cause human disease, such as iron-deficiency anemia, hemochromatosis, and porphyrias. Hence, their levels must be tightly regulated, requiring a complex network of transporters and feedback mechanisms. The use of zebrafish to study these pathways and the underlying genetics offers many advantages, among others their optical transparency, ex-vivo development and high genetic and physiological conservations...
2017: Methods in Cell Biology
https://www.readbyqxmd.com/read/28118224/acute-hepatic-and-erythropoietic-porphyrias-from-ala-synthases-1-and-2-to-new-molecular-bases-and-treatments
#9
Hana Manceau, Laurent Gouya, Hervé Puy
PURPOSE OF REVIEW: Many studies over the past decade have together identified new genes including modifier genes and new regulation and pathophysiological mechanisms in inherited inborn diseases of the heme biosynthetic pathway. A new porphyria has been characterized: X-linked protoporphyria and the perspective to have innovative treatment at very short-term became a reality. We will summarize how recent data on both ALAS1 and ALAS2 have informed our understanding of disease pathogenesis with an emphasis on how this information may contribute to new therapeutic strategies...
January 21, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28108048/bullous-pseudobullous-pustular-dermatoses
#10
Mark R Wick
Several dermatoses are typified by the formation of spaces (blisters; bullae) within or beneath the epidermis. These may be acellular or filled with particular species of inflammatory cells. Etiological categories include infectious, immune-mediated, genetic, drug-related, and idiopathic lesions. Examples of such disorders include impetigo, Herpes virus infections, pemphigus, bullous pemphigoid and pemphigoid gestationis, epidermolysis bullosa acquisita, IgA-related dermatoses, inherited epidermolysis bullosa variants, Hailey-Hailey disease, and porphyria cutanea tarda...
December 14, 2016: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28045721/case-report-red-urine-after-day-care-strabismus-surgery
#11
Pregardien Caroline, Nassogne Marie-Cécile, Yuksel Demet, Veyckemans Francis
In the absence of surgery on the urinary tract, the emission of red urine after anesthesia should be considered as a diagnostic emergency because it can be a sign of hematuria, hemoglobinuria, blood transfusion reaction, significant myoglobinuria, or porphyria.This case describes the management of a 12-year-old boy who presented red urine at the day care unit after strabismus surgery.
February 15, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28031405/a-variant-of-peptide-transporter-2-predicts-the-severity-of-porphyria-associated-kidney-disease
#12
Dimitri Tchernitchko, Quentin Tavernier, Jérôme Lamoril, Caroline Schmitt, Neila Talbi, Said Lyoumi, Anne-Marie Robreau, Zoubida Karim, Laurent Gouya, Eric Thervet, Alexandre Karras, Hervé Puy, Nicolas Pallet
CKD occurs in most patients with acute intermittent porphyria (AIP). During AIP, δ-aminolevulinic acid (ALA) accumulates and promotes tubular cell death and tubulointerstitial damage. The human peptide transporter 2 (PEPT2) expressed by proximal tubular cells mediates the reabsorption of ALA, and variants of PEPT2 have different affinities for ALA. We tested the hypothesis that PEPT2 genotypes affect the severity and prognosis of porphyria-associated kidney disease. We analyzed data from 122 individuals with AIP who were followed from 2003 to 2013 and genotyped for PEPT2 At last follow-up, carriers of the PEPT2*1*1 genotype (higher affinity variant) exhibited worse renal function than carriers of the lower affinity variants PEPT2*1/*2 and PEPT2*2/*2 (mean±SD eGFR: 54...
December 28, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28025645/clinical-and-laboratory-features-of-acute-porphyria-a-study-of-36-subjects-in-a-chinese-tertiary-referral-center
#13
Jing Yang, Qianlong Chen, Hang Yang, Baolai Hua, Tienan Zhu, Yongqiang Zhao, Huadong Zhu, Xuezhong Yu, Li Zhang, Zhou Zhou
Porphyria is a group of eight metabolic disorders characterized by defects in heme biosynthesis. The presentation of porphyria is highly variable, and the symptoms are nonspecific, which accounts in part for delays in establishing a diagnosis. In this study, we report the characteristics of 36 Chinese acute porphyria patients. Most of them were female (33/36), and the median age was 25.3 years (range 18-45 years). The most frequent presenting symptom was abdominal pain (32/36). Hyponatremia was the most common electrolyte abnormality (29/36), and the serum sodium concentration was significantly negatively correlated with convulsion (p = 0...
2016: BioMed Research International
https://www.readbyqxmd.com/read/28011390/reversible-mri-findings-in-a-case-of-acute-intermittent-porphyria-with-a-novel-mutation-in-the-porphobilinogen-deaminase-gene
#14
Jing Yang, Hang Yang, Qianlong Chen, Baolai Hua, Tienan Zhu, Yongqiang Zhao, Xuezhong Yu, Huadong Zhu, Zhou Zhou
Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the of heme biosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, and visual disorder associated with potentially reversible neuroradiological abnormalities predominantly in the parieto-occipital lobes...
December 18, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28003770/advances-in-the-management-of-erythropoietic-protoporphyria-role-of-afamelanotide
#15
REVIEW
Ashley M Lane, Jerome T McKay, Herbert L Bonkovsky
Erythropoietic protoporphyria (EPP) and the phenotypically similar disease X-linked protoporphyria (XLPP) are inherited cutaneous porphyrias characterized clinically by acute non-blistering photosensitivity, intolerance to sunlight, and significantly reduced quality of life. They are due to marked overproduction of protoporphyrin (PP) chiefly by erythroblasts and reticulocytes. In EPP, the underlying genetic defect is in the ferrochelatase gene, which encodes the final enzyme in the heme synthetic pathway. In XLPP, the genetic defect is a gain-of-function mutation, usually a four-base deletion, in the gene that encodes the enzyme 5-aminolevulinic acid synthase-2, the first and rate-controlling enzyme of heme synthesis in developing red blood cells...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27982422/update-review-of-the-acute-porphyrias
#16
REVIEW
Penelope E Stein, Michael N Badminton, David C Rees
Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. To date, all UK cases have been one of the three autosomal dominant forms, although penetrance is low and most gene carriers remain asymptomatic. Clinical presentation is typically with acute neurovisceral attacks characterised by severe abdominal pain, vomiting, tachycardia and hypertension. Severe attacks may be complicated by hyponatraemia, peripheral neuropathy sometimes causing paralysis, seizures and psychiatric features...
December 16, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27960012/-porphyrias-and-the-kidney
#17
Caterina Canavese
No abstract text is available yet for this article.
2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27930636/what-hematologists-need-to-know-about-acute-hepatic-porphyria
#18
Manisha Balwani
No abstract text is available yet for this article.
November 2016: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/27891417/a-commonly-missed-well-known-entity-acute-intermittent-porphyria-a-case-report
#19
Smilu Mohanlal, Radha Gulati Ghildiyal, Alpana Kondekar, Poonam Wade, Richa Sinha
Acute Intermittent Porphyria (AIP) usually presents with abdominal pain, peripheral neuropathy and psychiatric manifestations. Incidence of AIP being 5 in 1,00,000. We present a case of an 11-year-old male child with multiple cranial nerve involvement, quadriparesis, focal convulsions, hypertension, hyponatremia with history of recurrent abdominal pain. His complete haemogram, ultrasonography (USG) abdomen, renal function tests were normal, he was also evaluated for tuberculosis which was negative. On further evaluation Electroencephalography (EEG) was suggestive of a generalised seizure disorder, MRI Brain suggestive of Posterior Reversible Encephalopathy Syndrome (PRES), Electromyography revealed a sensory motor axonal polyneuropathy and urine UV fluoresence test was positive for porphobilinogen which clinched the diagnosis of AIP...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27871506/elective-cholecystectomy-performed-on-patient-with-variegate-porphyria-propofol-based-total-intravenous-anesthesia-with-target-controlled-infusion
#20
Adam Kuźmiński, Michał Aporowicz, Monika Brol, Anna Żołnowska, Maciej Masternak
Porphyria is caused by disorders of enzymes that synthetize porphyrins. Both elective and emergency surgical procedures on patient suffering from porphyria may provoke acute symptoms. These patients require special anesthetic management since some of commonly used anesthetic agents may also induce acute manifestation of porphyria. We present the case of 53-year-old woman previously diagnosed with porphyria who underwent elective laparoscopic cholecystectomy. Propofol-based total intravenous anesthesia with target-controlled infusion was used...
December 2016: Journal of Clinical Anesthesia
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