Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients

Jaramillo-Calle, Daniel A.; Acevedo, Daniel Camilo Aguirre

doi:10.1007/8904_2018_125

Cited by 6 publications

(4 citation statements)

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“…Acute rhabdomyolysis has been described several times associated with acute neurovisceral crisis in AHP, most commonly in the context of severe presentations in the ICU with hydroelectrolytic disturbances and preceded by autonomic neuropathy and acute encephalopathy ( Devars du Mayne et al, 1987 ; Marsden and Peters, 2004 ; García-Martul et al, 2008 ; Yrjönen et al, 2008 ; Jaramillo-Calle and Acevedo, 2019 ). Isolated or recurrent episodes of rhabdomyolysis are not typically observed in AHP ( Adams and Amaya, 2014 ), and it is not usual to represent the presenting clinical event, and myoglobinuria is a variable finding ( Yrjönen et al, 2008 ; Adams and Amaya, 2014 ; Karakulova et al, 2019 ).…”

Section: The Neuromuscular Manifestations Of Acute Hepatic Porphyria and Their Pathophysiological Mechanismsmentioning

confidence: 99%

“…A summary of the main pathogenic and likely pathogenic variants reported to date in the four genes associated with AHP is provided ( Figure 4 ). Most pathogenic variants related to AHP are classified as missense, small deletions, and small insertions or duplications ( Chen et al, 2016 ; O’Malley et al, 2018 ; Jaramillo-Calle and Acevedo, 2019 ). AIP, VP, and most cases of HCP are associated with autosomal dominant pattern of inheritance and occurs due to heterozygous pathogenic variants, respectively, in HMBS , PPOX , and CPOX genes.…”

Section: Genetic Basis Of Acute Hepatic Porphyriamentioning

confidence: 99%

“…Homozygous and compound heterozygous variants in ALAD gene are also identified in the rare context of autosomal recessive Doss porphyria (ALAD deficiency). Compound heterozygous variants have also been identified in rare presentations of childhood-onset autosomal recessive AIP ( O’Malley et al, 2018 ; Jaramillo-Calle and Acevedo, 2019 ; Souza et al, 2021 ).…”

Section: Genetic Basis Of Acute Hepatic Porphyriamentioning

confidence: 99%

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Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations

et al. 2021

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Acute hepatic porphyria represents a rare, underdiagnosed group of inherited metabolic disorders due to hereditary defects of heme group biosynthesis pathway. Most patients have their definite diagnosis after several years of complex and disabling clinical manifestations and commonly after life-threatening acute neurovisceral episodes or severe motor handicap. Many key studies in the last two decades have been performed and led to the discovery of novel possible diagnostic and prognostic biomarkers and to the development of new therapeutic purposes, including small interfering RNA-based therapy, specifically driven to inhibit selectively delta-aminolevulinic acid synthase production and decrease the recurrence number of severe acute presentation for most patients. Several distinct mechanisms have been identified to contribute to the several neuromuscular signs and symptoms. This review article aims to present the current knowledge regarding the main pathophysiological mechanisms involved with the acute and chronic presentation of acute hepatic porphyria and to highlight the relevance of such content for clinical practice and in decision making about therapeutic options.

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Section: The Neuromuscular Manifestations Of Acute Hepatic Porphyria and Their Pathophysiological Mechanismsmentioning

confidence: 99%

Section: Genetic Basis Of Acute Hepatic Porphyriamentioning

confidence: 99%

Section: Genetic Basis Of Acute Hepatic Porphyriamentioning

confidence: 99%

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Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations

et al. 2021

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“…At present, there is a lack of epidemiological data on AIP worldwide, but Europe performed large scale prospective study to investigate the incidence of porphyrias ( Elder et al, 2013 ). And multiple countries such as South Africa ( Fortgens et al, 2017 ), the United States ( Bonkovsky et al, 2014 ), Argentina ( Cerbino et al, 2015 ), Colombia ( Jaramillo-Calle and Aguirre Acevedo, 2019 ), and Russia ( Goncharova et al, 2019 ) have reported cohort studies on AIP. And with the development of sequencing technology, more and more AIP patients have been reported in China.…”

Section: Introductionmentioning

confidence: 99%

Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review

Ren,

Li,

Lei

et al. 2023

Front. Genet.

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Background: Early detection and diagnosis are important crucial to prevent life-threatening acute attacks in patients with acute intermittent porphyria (AIP). We aim to provide comprehensive data on the clinical and hydroxymethylbilane synthase (HMBS) gene variant characteristics and genotype-phenotype association of Chinese patients with AIP in order to improve clinicians’ knowledge of AIP and reduce misdiagnosis and mistaken treatment.Methods: We searched the literature on Chinese patients with AIP in PubMed, Web of Science, Wiley Online Library, ScienceDirect and Chinese literature databases up to August 2023 in our analysis to explore the clinical and HMBS gene variant characteristics of Chinese patients with AIP.Results: A total of 41 original articles associated with Chinese AIP patients were included for analysis: 97 variants were detected in 160 unrelated families, including 35 missense, 29 frameshift, 24 splicing and 9 nonsense variants, with c.517C>T being the most common variant. Clinical data were reported in 77 of 160 patients: Most of them were female (67/77) and the age was 28.8 ± 9.9 years. The most common symptom was abdominal pain (73/77, 94.8%), followed by central nervous system symptoms (45/77, 58.4%). 13.0% (10/77) of patients experienced psychiatric symptoms. Hyponatremia was the most common electrolyte abnormality (42/77). 31 patients received carbohydrate loading therapy, and 30 of them were improved. 6 patients were treated with carbohydrate loading combined with hemin therapy and 5 eventually improved. All variants causing premature stop codons, frameshifts or enzyme activity center may experience more severe clinical phenotypes such as seizures, respiratory paralysis, intracranial hemorrhage disorder or respiratory failure.Conclusion: The most common presenting symptom in Chinese AIP patients was abdominal pain, followed by central nervous system symptoms. The HMBS gene analysis in Chinese AIP patients revealed that the heterogeneity is strong and the most common variant was missense mutation, with c.517C>T being the most common variant. The genotype-phenotype association helps guide clinical diagnosis and treatment. However, the treatment for AIP in China is limited and monolithic, and more attention needs to be paid to the treatment.

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Incidencia y prevalencia de la protoporfiria eritropoyética en Colombia, 2014-2018

Jaramillo-Calle

2021

Actas Dermo-Sifiliográficas

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Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients

Abstract: Diagnosis and treatment of AHPs in Colombia have improved in recent decades. However, there are still important shortcomings to address.

Cited by 6 publications

References 44 publications

Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations

Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations

Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review

Incidencia y prevalencia de la protoporfiria eritropoyética en Colombia, 2014-2018

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