Psicoterapia de constructos personales: intervención centrada en dilemas en un caso de ansiedad generalizada / Psychotherapy of personal constructs: intervention focused on dilemmas in a case of generalized anxiety

Esta presentación de caso, expone una intervención de Constructos Personales centrada en dilemas implicativos en una adolescente de 16 años de la ciudad de Medellín diagnosticada con Porfiria Aguda Intermitente de acuerdo con la Clasificación Internacional de Enfermedades (CIE 10) y con Trastorno De Ansiedad Generalizada (TAG) acorde a los criterios del Manual Diagnóstico y Estadístico de los Trastornos Mentales, quinta edición (DSM 5). El proceso terapéutico se desarrolló en deciseís sesiones, teniendo como punto de referencia los parámetros propuestos por Senra, Feixas y Fernandes (2005), quienes plantean un protocolo general para el abordaje de estructuras dilemáticas, igualmente se consideró la elaboración posterior de Feixas y Compañ (2015) para el diseño del proceso terapéutico. Se definieron los dilemas implicativos a partir de la entrevista, la técnica de rejilla y la autocaracterización (Kelly, 1955). Durante la psicoterapia se abordaron dos de las configuraciones dilemáticas, las cuales se relacionaban con competencia personal e interacción social. En la etapa de finalización del tratamiento se evidenciaron cambios significativos a nivel del sistema de construcciones personales tales como el aumento de la autoestima, mayor percepción de cercanía con las personas significativas, así como una mayor adecuación de éstos a sus construcciones valoradas, transformaciones cuantificadas gracias a la Técnica de Rejilla de Kelly. Igualmente, a nivel sintomático se lograron cambios notables, partiendo de la comparación de las mediciones pre-post tratamiento obtenidas con el inventario de ansiedad y depresión de Beck (BAI, BDI II). Estos resultados aportan evidencia a la Psicología de Constructos Personales, confirmando hallazgos anteriormente expuestos en la literatura científica.

This case presentation exposes an intervention of personal constructs, focused on implicative dilemmas in a 16-year-old girl from Medellin diagnosed with intermittent acute porphyria (AIP) according to the International Classification of Diseases (ICD 10) and with disorder of generalized anxiety (DGA) according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM 5). The therapeutic process was developed in sixteen sessions, having as reference the parameters proposed by Senra, Feixas, and Fernandes (2005), who propose a general protocol for the approach of dilemmatic structures, the subsequent elaboration of Feixas and Compañ was also considered (2015) for the design of the therapeutic process. The implicative dilemmas were defined from the interview, the grid technique and the self-characterization (Kelly, 1955). During psychotherapy, two of the dilemmatic configurations were addressed, which related to personal competence and social interaction. In the stage of completion of the treatment, significant changes were evidenced at the level of the personal construction system such as the increase of self-esteem, greater perception of closeness with significant people, as well as, a greater adaptation of these to their value constructions; quantified transformations thanks to Kelly's Grid Technique. Similarly, significant changes were achieved at the symptomatic level, based on the comparison of pre-post treatment measurements obtained with Beck's anxiety and depression inventory (BAI, BDI II). These results provide evidence to the psychology of personal constructs, which confirms findings previously exposed in the scientific literature.

Porfiria aguda intermitente con debut en el puerperio / Acute intermittent porphyria with debut in the puerperium

RESUMEN Objetivo: Las porfirias son trastornos que resultan de un defecto enzimático específico en la vía bioquímica de las porfirias. Los síntomas clínicos incluyen dolor abdominal, alteraciones gastrointestinales y manifestaciones psiquiátricas. Material y métodos: Mujer de 41 años, con diabetes gestacional y parto por cesárea hace 7 días, que acude a urgencias con convulsiones tónicoclónicas. En tratamiento antibiótico por infección de la herida quirúrgica. Los exámenes de laboratorio demostraron hiponatremia, hipokalemia y anemia. El diagnóstico de porfiria aguda intermitente (PAI) fue confirmado por el hallazgo de porfirinas elevadas en orina. La paciente fue dada de alta después de dos semanas. Resultados: se solicita un test rápido de PBG cuantitativo en orina, que resulta positivo (>10 mg PBG / g creatinina), por lo que se solicita un estudio completo de la enfermedad y se envían muestras a un hospital de referencia para análisis bioquímico y genético de PBGD/HMBS (Hidroximetilbilano sintetasa /PBG-desaminasa). Presenta la mutación c.815_818 del AGGA, que se trasmite de forma autosómica dominante, aunque con baja penetrancia. Conclusión: El diagnóstico de PAI es complejo debido al amplio espectro de síntomas, además el embarazo y el puerperio puede exacerbar la enfermedad.

SUMMARY Objective: Porphyrias are a heterogeneous group of either inherited or acquired disorders of the enzymatic biosynthesis of porphyrins. In these diseases, specific abnormalities of enzymes cause diverse clinical manifestations including abdominal pain, gastrointestinal alterations and psychiatric manifestations. Materials and methods: A 41-year-old woman with gestational diabetes and cesarean delivery 7 days ago with intradural anesthesia. She was admitted with tonic clonic seizures and diffuse abdominal pain. She is under antibiotic treatment for infection of the surgical wound. Laboratory exams showed hyponatremia, hypokalemia and anemia. A diagnosis of acute intermittent porphyria was confirmed with elevated porphyrinis in urine. Results: a rapid test of quantitative PBG in urine is permormed, which is positive (>10 mg PBG / g creatinin), so a complete study of the disease is requested and samples are sent to a reference hospital for biochemical and genetic analysis of PBGD / HMBS (Hydroxymethylbilane synthetase / PBG-deaminase). It presents the c.815_818 mutation of the AGGA, which is transmitted in an autosomal dominant manner, although with low penetrance. Conclusion: The diagnosis of acute intermittent porphyria is complex because of the wide spectrum of symptoms. Pregnancy or the puerperium might exacerbate the disease

The role of ClpX in erythropoietic protoporphyria

ABSTRACT Hemoglobin is an essential biological component of human physiology and its production in red blood cells relies upon proper biosynthesis of heme and globin protein. Disruption in the synthesis of these precursors accounts for a number of human blood disorders found in patients. Mutations in genes encoding heme biosynthesis enzymes are associated with a broad class of metabolic disorders called porphyrias. In particular, one subtype - erythropoietic protoporphyria - is caused by the accumulation of protoporphyrin IX. Erythropoietic protoporphyria patients suffer from photosensitivity and a higher risk of liver failure, which is the principle cause of morbidity and mortality. Approximately 90% of these patients carry loss-of-function mutations in the enzyme ferrochelatase (FECH), while 5% of cases are associated with activating mutations in the C-terminus of ALAS2. Recent work has begun to uncover novel mechanisms of heme regulation that may account for the remaining 5% of cases with previously unknown genetic basis. One erythropoietic protoporphyria family has been identified with inherited mutations in the AAA+ protease ClpXP that regulates ALAS activity. In this review article, recent findings on the role of ClpXP as both an activating unfoldase and degrading protease and its impact on heme synthesis will be discussed. This review will also highlight the role of ClpX dysfunction in erythropoietic protoporphyria.

Porfiria aguda. Dilema diagnóstico y manifestaciones neuroendocrinas / Acute porphyria. Diagnostic dilemma and neuroendocrine manifestations

Resumen La porfiria intermitente aguda (PIA) es una enfermedad poco frecuente, considerada huérfana, que se caracteriza por crisis neuroviscerales, el dolor abdominal siendo su síntoma más común, acompañado en muchos casos, de síntomas inespecíficos, haciendo difícil su diagnóstico temprano. El retraso en el diagnóstico y tratamiento de esta entidad puede resultar catastrófico o incluso fatal, provocando daño neurológico a largo plazo o permanente. Reportamos el caso de un adulto joven que consulta en varias ocasiones por dolor abdominal inespecífico y 24 horas después de la admisión desarrolla inestabilidad autonómica simpática con cifras tensionales elevadas y taquicardia. Posteriormente debilidad muscular que evoluciona hasta cuadriplejia e hiponatremia con criterios para secreción inadecuada de hormona antidiurética (SIADH). Estos datos, junto con coloración rojiza en orina, llevan al diagnóstico de porfiria. Presentamos las características clínicas y bioquímicas enfatizando la importancia de incluir la porfiria dentro de los diagnósticos diferenciales de dolor abdominal y disautonomia de causa indeterminada. (Acta Med Colomb 2017; 42: 140-143).

Abstract Acute intermittent porphyria (AIP) is an infrequent and considered orphan disease, characterized by neurovisceral crisis, being abdominal pain the most common symptom, accompanied in many cases by non-specific symptoms, making early diagnosis difficult. The delay in the diagnosis and treatment of this entity can be catastrophic or even fatal, causing long-term or permanent neurological damage. The case of a young adult who attends medical consultation several times for non-specific abdominal pain and 24 hours after admission develops sympathetic autonomic instability with elevated blood pressure and tachycardia is presented. He subsequently presents muscular weakness that evolves to quadriplegia and hyponatremia with criteria for inadequate secretion of antidiuretic hormone (SIADH). These data together with reddish urine staining lead to the diagnosis of porphyria. The clinical and biochemical characteristics emphasizing the importance of including porphyria within the differential diagnoses of abdominal pain and dysautonomia of indeterminate cause are presented. (Acta Med Colomb 2017; 42: 140-143).

Neuropatía periférica como forma de presentación inicial en ataque agudo de porfiria. Reporte de caso clínico / Peripheral neuropathy as initial symptom in porphyria attacks: A case report

Las porfirias constituyen un grupo de ocho enfermedades de baja prevalencia, causadas por defectos enzimáticos en la vía metabólica de la síntesis del grupo hem. Una de sus formas es la porfiria intermitente aguda; afecta a 1,5/100.000 personas año y se presenta con dolor abdominal, taquicardia, parestesias, constipación y vómito. La neuropatía porfírica es en esencia motora, simétrica y suele ser proximal. Se presenta el caso de una paciente de sexo femenino con neuropatía periférica, dolor abdominal y elevación de las transaminasas, en quien se documentó porfiria intermitente aguda. Después de instaurado el manejo, los síntomas se resolvieron...(AU)

Porphyrias are a group of eight low prevalence disorders of heme metabolism, each characterized by a defect in an enzyme required for the synthesis of heme. Acute intermittent porphyria, affecting 1.5 per 100.000 people per year manifesting with abdominal pain, tachycardia, paresthesia, constipation and vomiting, is one type of porphyria. Porphyric neuropathy is fundamentally motor, symmetrical and often has a proximal predilection. A case is presented in a female patient in whom acute intermittent porphyria was documented. Her symptoms included peripheral neuropathy, abdominal pain and elevation of transaminases. Her symptoms resolved after receiving treatment...(AU)

Acute Intermittent Porphyria Presenting with Periodic Leg Pain

No abstract available.

Metabolismo del hemo: las dos caras de los efectos de la acumulación de precursores y porfirinas / Heme metabolism: the janus nature of precursorsand porphyrins / Metabolismo do hemo: as duas faces dos efeitos da acumulação de precursores e porfirinas

Las porfirias son enfermedades metabólicas consecuencia de fallas en la biosíntesis del hemo, caracterizadas por un patrón específico de acumulación y excreción de intermediarios, responsables de su patofisiología. En las porfirias agudas el exceso de ácido d-aminolevúlico (ALA) produce una sintomatología neuroabdominal asociada al daño oxidativo por formación de especies reactivas de oxígeno (ROS), originadas por autooxidaxión del ALA. En las cutáneas, la sintomatología es producto de la acumulación de porfirinas, que como el ALA, inducen la formación de ROS. Su desencadenamiento se precipita por factores endógenos (ayuno, estrés, hormonas) y/o exógenos (fármacos), en particular algunos anestésicos. Se presenta una revisión de los estudios bioquímicos y genéticos en pacientes con diferentes porfirias obtenidos en el Centro de Investigaciones de Porfirias y Porfirinas (CIPYP), durante los últimos 38 años, que permitieron ampliar el conocimiento sobre las bases moleculares sobre estas patologías. Se describen los logros resultantes del empleo de modelos experimentales de porfiria, inducida farmacológica o genéticamente, que contribuyeron a la clasificación de algunas drogas como prohibidas para pacientes con porfiria. Finalmente, las porfirinas generadoras de ROS, y por ende inductoras de muerte celular, tienen su aplicación para combatir infecciones por organismos hemo-deficientes como Trypanosoma cruzi y también para ser utilizadas como fotosensibilizadores en la terapia fotodinámica (TFD).

Porphyrias comprise a group of metabolic disorders of the heme biosynthesis pathway resulting in a specific accumulation and excretion of intermediates which are responsible for their pathophysiology. Acute porphyrias are characterized by acute neurovisceral symptoms due to the overproduction and accumulation of d-aminolevulinic acid (ALA) which leads to an oxidative damage resulting from the formation of reactive oxygen species (ROS). In cutaneous porphyrias, the symptomatology is a result of porphyrin accumulation which also induces ROS moulding. In both cases, their clinical signs are precipitated by endogenous factors (stress, hormones, low calories intake) and/or exogenous drugs, in particular some anaesthetics. A review of the biochemical and genetic results obtained from patients with different porphyrias, diagnosed at the CIPYP during the last 38 years is presented here, aimed at obtaining additional evidence about the molecular nature of these disorders. The achievements obtained from experimental porphyria models -pharmacologically or genetically induced- are also described, which contributed to the classification of some drugs as prohibited for their use in porphyric patients. Finally, as porphyrins produce ROS and therefore cellular death, they can be used to treat infections by heme-deficient organisms like Trypanosoma cruzi and also as photosensitizers in photodynamic therapy (TFD).

As Porfirias são doenças metabólicas decorrentes de falhas na biossíntese do Hemo, caracterizadas por um padrão específico de acumulação e excreção de intermediários responsáveis de sua patofisiologia. Nas Porfirias Agudas, o excesso de ácido δ-aminolevulínico (ALA) produz uma sintomatologia neuroabdominal associada ao dano oxidativo por formação de espécies reativas de oxigênio (ROS), decorrentes da auto-oxidação do ALA. Nas Cutâneas a sintomatologia é produto da acumulação de porfirinas, que como o ALA, induzem a formação de ROS. Seu desencadeamento precipita-se por fatores endógenos (jejum, estresse, hormônios) e/ou exógenos (fármacos), especialmente alguns anestésicos. Apresenta-se uma revisão dos estudos bioquímicos e genéticos em pacientes com diferentes Porfirias obtidos no Centro de Investigações de Porfirias e Porfirinas (CIPYP), durante os últimos 38 anos, que permitiram ampliar o conhecimento sobre as bases moleculares destas patologias. Descrevem-se as conquistas resultantes do uso de modelos experimentais de Porfiria, induzida farmacológica ou geneticamente, que contribuíram à classificação de algumas drogas como proibidas para pacientes com Porfiria. Afinal, as porfirinas geradoras de ROS e, por conseguinte, indutoras de morte celular têm sua aplicação para combater infecções por organismos hemo-deficientes como Trypanosoma cruzi e também ser utilizadas como fotossensibilizadores na terapia fotodinâmica (TFD).

Ocular Manifestations of Pediatric Systemic Disease / 한양의대학술지

Pediatric diseases are important because diagnosis and care for these can be complex. Among them, specific diseases have been associated with ocular involvement. This review presents the ocular manifestations of various pediatric diseases relevant to the clinician. An array of ocular manifestations of hyperthyroidism, hypoparathyroidism, diabetes mellitus, porphyria, cystinosis, mucopolysaccharidosis, Wilson disease, juvenile idiopathic arthritis, systemic lupus erythematosus, Marfan syndrome, Weill-Marchesani syndrome are described. In this review we will review ocular manifestations of systemic pediatric diseases for comprehensive understanding of eye involvement. With this review, authors can recognize the ocular manifestations for diagnosis and management of pediatric systemic diseases.

Porphyria Cutanea Tarda in a Hemodialysis Patient / 대한피부과학회지

No abstract available.

El uso de placebo en ensayos clínicos de fase III en Brasil / The use of placebos in phase III clinical trials in Brazil

El Consejo Federal de Medicina de Brasil (CFM) -órgano normativo y fiscalizador del ejercicio ético de la medicina- prohibió, en 2008, la participación de médicos brasileños en investigaciones que utilizaran placebo para enfermedades con tratamiento eficaz y efectivo, en contraposición a la Declaración de Helsinki, que permite su uso en condiciones metodológicamente justificadas. Con el objetivo de verificar si la normativa ética del CFM modificó el uso de placebo en ensayos clínicos de fase III en Brasil, se analizaron varias características de sus registros en el ClinicalTrials.gov, en los períodos de 2003 a 2007 y de 2009 a 2013. Se concluye que: a) la normativa promulgada por el CFM en 2008 fue ineficaz y prevaleció la posición adoptada por la Declaración de Helsinki; b) el patrocinio de ensayos con placebo por parte de la industria farmacéutica multinacional fue significativo; c) predominaron las investigaciones de fármacos para enfermedades crónicas, y fueron poco significativas para las enfermedades postergadas, de importancia para Brasil.

In 2008, Brazil's Federal Council of Medicine [Conselho Federal de Medicina] (CFM) - regulatory and supervisory agency on the ethical practice of medicine - banned the participation of Brazilian doctors in studies using placebos for diseases with efficient and effective treatment. This position differs with the Helsinki Declaration, which allows the use of placebos in methodologically justified conditions. To ascertain whether the CMF's ethical regulation modified the use of placebos in phase III clinical trials in Brazil, characteristics of the records in ClinicalTrials.gov were researched in the periods from 2003 to 2007 and from 2009 to 2013. The conclusions reached were: a) the regulations issued by the CFM in 2008 were ineffective and the position adopted by the Helsinki Declaration prevails; b) there was significant sponsorship by the multinational pharmaceutical industry of trials with placebos; c) the research was predominantly on new drugs for chronic diseases, with little study done of the neglected diseases which are of great importance to Brazil.

Cirrose hepática secundária à porfiria / Cirrhosis secondary to porphyria

As porfirias são doenças raras que decorrem de deficiência enzimática em uma das oito enzimas que compõem a cadeia de biossíntese do heme e possuem manifestações clínicas variadas. Na maior parte das vezes, são distúrbios hereditários embora existam formas adquiridas. Apresentam ampla interação entre fatores genéticos e fatores ambientais. As manifestações clínicas dependem do tipo de porfirina acumulada, do local onde esta é produzida (fígado ou medula óssea), se acumula da maneira que a mesma é excretada e do mecanismo de toxicidade desta (neurotoxicidade, fotossensibilidade ou ambos). Relatamos um caso de uma paciente do sexo feminino com diagnóstico de cirrose hepática secundária à porfiria que possuía sobrecarga de ferro em exames laboratoriais, sendo descartada a presença de cirrose secundária à hemocromatose.

The porphyrias are rare diseases that result from enzyme deficiency in one of eighteen zymesthat make up the chainof heme biosynthesis and have varied clinical manifestations. In most cases are hereditary disorders, although there are acquired forms. They feature wide interaction between genetican denvironmental factors. Clinical manifestations depend on the accumulated porphyrin, the site where it is produced (liver orbone marrow) and accumulates in the way that it isexcretedand the mechanism of this toxicity (neurotoxicity, photo sensitivity or both). We report a case of a female patient diagnosed with liver cirrhosis secondary to porphyria who had iron overload in laboratory tests being discarded the presence of cirrhosis secondary to hemochromatosis.

Severe neurologic manifestations in acute intermittent porphyria developed after spine surgery under general anesthesia: a case report / 대한마취과학회지

Porphyrias are inherited metabolic disorders resulting from a specific enzyme defect in the heme biosynthetic pathway. Porphyrias are induced by various precipitants. Clinical features include abdominal pain, neurologic manifestations, autonomic neuropathy, and mental disturbance. Diagnosis may be delayed because of variable symptoms that mimic other diseases and because of the rarity of of porphyrias. Although most patients with known porphyria can complete anesthesia and surgery safely, undiagnosed porphyric patients are in danger of porphyric crisis due to inadvertent exposure to precipitating drugs and environment. We report a case of a patient who experienced delayed emergence with neurological disturbance after general anesthesia, ultimately diagnosed as acute intermittent porphyria.

Histoplasmosis diseminada subaguda en el contexto de VIH y porfiria cutánea tarda. A Propósito de un caso / Subacute disseminated histoplasmosis in a patient with HIV and porphyria cutanea tarda. A case report

La histoplasmosis es una micosis sistémica endémica en la República Argentina.Es la infección micótica profunda más ampliamente extendida en el mundo. Se ha convertido en una infección oportunista cada vez más frecuente entre los pacientes con un sistema inmune deteriorado por agentes farmacológicos o por el virus de la inmunodeficiencia humana (VIH).Presentamos un caso de histoplasmosis diseminada subaguda en un paciente con antecedentes de Porfiria Cutánea Tarda(PCT) e infección por VIH que representó un desafío diagnóstico dado a la similitud de las lesiones de histoplasmosis con PCT.

Histoplasmosis is a deep fungal endemic infection in Argentina and world widely. It has become an opportunistic infectionincreasingly among patients with an impaired immune system due to pharmacological agents or HIV.A case of subacute disseminated histoplasmosis in a patient with a history of HIV and Porphyria Cutanea Tarda (PCT), representinga diagnostic challenge by the similar clinical appearance between histoplasmosis and PCT lesions is reported.

Sporadic Porphyria Cutanea Tarda in a Patient with Multiple Sclerosis Treated with Interferon Beta 1-a Therapy: A Case Report

No abstract available.

A case report of anesthesia management in the liver transplantation recipient with porphyria: A case report / 대한마취과학회지

Porphyrias are a group of diseases characterized by an enzyme deficiency in the heme biosynthesis pathway, resulting in accumulation of precursor molecules in the tissue. Some porphyric patients develop progressive liver disease that requires liver transplantation. This case report describes special anesthetic challenges, including careful selection of drugs and the use of special filters that can exclude harmful wavelengths of ultraviolet, in a patient with porphyria who underwent living donor liver transplantation. Understanding the patient's status and disease process, and avoiding triggering factors of porphyria attacks, are important for successful liver transplantation anesthesia in patients with porphyria.

La porfiria aguda intermitente y el cirujano: un reto diagnóstico: reporte de un caso y revisión de la literatura / Acute intermittent porphyria and the surgeon: a diagnostic challenge: case report and literature review

La porfiria intermitente aguda es conocida, en el ámbito de la cirugía, como una de las causas de abdomen agudo no quirúrgico. No obstante, lo que no se menciona con frecuencia es la posibilidad de que cualquier procedimiento quirúrgico precipite un episodio agudo en pacientes con predisposición genética. Se presenta un caso florido de porfiria intermitente aguda precipitado por una apendicectomía, el cual complicó el posoperatorio de la paciente hasta el punto de requerir una laparotomía no terapéutica, dado el complejo sintomático de difícil interpretación.

Acute porphyria is an uncommon cause of non surgical acute abdomen. Important is the fact that any surgical intervention could set off an acute attack in particular cases, when the patient has genetical predisposition. We present a case of an acute attack of Intermitent Acute Porphyria triggered by an appendectomy. The patient developed the typical syndrome during the postoperative period, including the abdominal symptoms that imitate an acute abdomen that required a non- therapeutic laparotomy.

Pseudoporfiria induzida pela diálise tratada com N-acetilcisteína oral / Pseudoporphyria induced by dialysis treated with oral N-acetylcysteine

Pseudoporfiria é dermatose bolhosa rara, semelhante clínica e histopatologicamente à porfiria cutânea tardia. Acomete, principalmente, pacientes renais crônicos em diálise peritoneal ou hemodiálise. Medicamentos também podem ser envolvidos na etiologia. O diagnóstico e o manejo desta entidade é um desafio para os dermatologistas. Os autores demonstram um caso de pseudoporfiria, relacionada à diálise, com evolução favorável após o uso de N-acetilcisteína oral.

Pseudoporphyria is a rare bullous dermatosis that clinically and histopathologically is similar to porphyria cutanea tarda. It mainly affects patients with chronic renal failure on peritoneal dialysis or hemodialysis. Medications can also be involved in the etiology. Diagnosis and management of this condition is a challenge for dermatologists. The authors report a case of pseudoporphyria related to dialysis with favorable outcome after the use of oral N-acetylcysteine.

Porfiria y gestación: a propósito de un caso / Porphyria and pregnancy: case report

The porphyrias are a group of diseases caused by a deficiency of enzymes responsible for the synthesis of heme, that can lead to severe disease that requires early diagnosis to avoid complications. The frequency of the disease is low and its association with pregnancy unusual, but it is a good time for patients carrying develop the disease or suffer an exacerbation of the same, hence the vital importance of prophylaxis of the factors risk.

Las porfirias son un grupo de enfermedades producidas por un déficit de las enzimas encargadas de la síntesis del hemo, que pueden dar lugar a un cuadro clínico grave que requiere un diagnóstico precoz para evitar complicaciones. La frecuencia de la enfermedad es baja y su asociación con el embarazo inusual, pero es un buen momento para que las pacientes portadoras desarrollen la enfermedad o sufran una exacerbación de la misma, de ahí la importancia vital de la profilaxis de los factores de riesgo.

Porfiria cutânea tardia esporádica associada ao uso de estrógenos: relato de caso e revisão de literatura / Sporadic late cutaneous porphyria associated estrogen use: a case report and literature review

Porfiria é a designação de um grupo de doenças enzimáticas que afetam a síntese do heme. São sete os tipos de porfiria, que se diferenciam pela enzima afetada. A porfiria cutânea tardia é acarretada pela deficiência da enzima uroporfirinogênio descarboxilase, gerando manifestações cutâneas e hepáticas aos portadores. Fatores como estrógenos, álcool, HIV, HCV, juntamente com o ferro podem desencadear a doença que é diagnosticada principalmente por análise urinária. O tratamento se dá por flebotomia e administração de cloroquina. No caso relatado a paciente, 54 anos, apresentou bolha na mão esquerda e após alguns meses foi diagnosticada porfiria cutânea tardia, por análise histopatológica alterada e eliminação anormal de uroporfirinas urinárias. O provável fator desencadeante foi o estrógeno, devido à eliminação de possível causa por outros fatores. Após tratamento com cloroquina e eliminação do fator causal, houve remissão da doença.

Porphyria is the designate of an enzyme group of diseases that affect the synthesis of heme. There are seven types of porphyria, which differ by the enzyme affected. Porphyria cutanea tarda is caused for the deficiency of the enzyme uroporphyrinogen descarboxylase, generating skin expression disorders and liver patients. Factors such as estrogens, alcohol, HIV, HCV, getting together with iron can cause the disease is mainly diagnosed by urinalysis. The treatment is done by phlebotomy and administration of chloroquine. In that case related the patient, 54 years old, presented blister on his left hand and after a some months was diagnosed tarda cutaneous porphyria, through histopathology and altered abnormal urinary elimination uroporphyrin. The probable factor precipitating was estrogen, due to elimination of possible causes for other factors. After treatment with chloroquine and elimination of the causal factor, there was remission of the disease.

Dor neuropática em paciente com porfiria: relato de caso / Neuropathic pain in a patient with porphyria: case report / Dolor neuropático en paciente con porfiria: relato de caso

JUSTIFICATIVA E OBJETIVOS: As porfirias são um grupo de distúrbios herdados ou adquiridos que envolvem enzimas participantes do processo de síntese do heme. As manifestações agudas afetam o sistema nervoso, resultando em dor abdominal, vômitos, neuropatia aguda, convulsões e distúrbios mentais. A fisiopatogenia resulta do efeito tóxico dos precursores de porfirina, podendo ser desencadeada por fármacos usados de rotina na prática médica, restrição intensa de carboidratos e estresse metabólico. O objetivo deste trabalho foi apresentar um caso de porfiria de diagnóstico tardio, evoluindo para dor crônica. RELATO DO CASO: Paciente do sexo feminino, 27 anos, internada há 5 meses com dor abdominal intensa sem diagnóstico clínico. Foi indicada laparotomia exploradora, a qual não evidenciou causa para o quadro. A paciente, exposta a trauma cirúrgico e medicamentos que desencadeiam crise de porfiria, como cetoprofeno, metoclopramina e antibióticos, evoluiu com hiponatremia importante, elevação de enzimas hepáticas, convulsão e perda dos movimentos, sendo internada em Unidade de Terapia Intensiva. Após diagnóstico de porfiria, manteve dor em membros inferiores, sendo encaminhada para tratamento no Serviço de Dor da Santa Casa de Misericórdia de São Paulo. Iniciou tratamento com amitriptilina, gabapentina, opioide e analgésicos simples, mas continuou apresentando crises recorrentes da porfiria e, insegura quanto à condução do caso, abandonou o acompanhamento. CONCLUSÕES: A porfiria é um dos raros grupos de distúrbios enzimáticos que permanecem desconhecidos por grande parte dos profissionais de saúde. O paciente, ao perceber esse desconhecimento sobre a doença, tem seu nível de estresse e insegurança com o tratamento aumentado, dificultando a adesão e a continuidade ao mesmo.

BACKGROUND AND OBJECTIVES: Porphyrias represent a group of inherited or acquired disorders that involve enzymes that participate in heme synthesis. Acute manifestations affect the nervous system resulting in abdominal pain, vomiting, acute neuropathy, seizures, and mental disorders. The physiopathogeny results from the toxic effects of porphyrin precursors, and it can be triggered by drugs used routinely in medical practice, severe carbohydrate restriction, and metabolic stress. The objective of this report was to present the case of a late onset porphyria evolving to chronic pain. CASE REPORT: This is a 27 years old female who was admitted 5 months prior to her clinic appointment with severe abdominal pain without diagnosis. An exploratory laparotomy was indicated, which failed to demonstrate a cause for her pain. The patient was exposed to surgical trauma and drugs that can trigger porphyria, such as ketoprophen, metoclopramide, and antibiotics, and she evolved with significant hyponatremia, increased liver enzymes, seizures, and loss of movements that led to be admitted to the Intensive Care Unit. After the diagnosis of porphyria was made, the patient remained with pain in the lower limbs, being referred to the Pain Department of Santa Casa de Misericórdia de São Paulo. Treatment with amitriptyline, gabapentin, opioid, and simple analgesics was instituted; however, the patient continued to present recurring episodes of porphyria and, feeling insecure with the conduction of the case, she stopped the treatment. CONCLUSIONS: Porphyria is one of the rare groups of enzymatic disorders that remain unknown by the great majority of health professionals. Upon recognizing this lack of knowledge about the disease, the level of stress and insecurity of the patient increases hindering adhesion to and continuity of the treatment.

JUSTIFICATIVA Y OBJETIVOS: Las porfirias son un grupo de disturbios heredados o adquiridos que involucran las enzimas participantes en el proceso de síntesis del grupo hemo. Las manifestaciones agudas afectan el sistema nervioso, trayendo como resultando el dolor abdominal, vómitos, neuropatía aguda, convulsiones y disturbios mentales. La fisiopatogenia es el resultado del efecto tóxico de los precursores de la porfirina, pudiendo ser desencadenada por fármacos usados como rutina en la práctica médica, la restricción intensa de carbohidratos y por el estrés metabólico. El objetivo de este trabajo fue presentar un caso de porfiria de diagnóstico tardío, que evolucionó para dolor crónico. RELATO DEL CASO: Paciente del sexo femenino, 27 años, ingresada hace 5 meses, con dolor abdominal intenso sin diagnóstico clínico. Fue indicada la laparotomía exploradora, que no mostró la causa para el cuadro. La paciente, expuesta al trauma quirúrgico y a los medicamentos que desencadenan crisis de porfiria, como el ceprofeno, la metoclopramina y los antibióticos, evolucionó con importante hiponatremia, elevación de enzimas hepáticas, convulsión y pérdida de los movimientos, y tuvo que ser ingresada en una Unidad de Cuidados Intensivos. Después del diagnóstico de porfiria, continuó con el dolor en los miembros inferiores y tuvo que ser derivada al Servicio de Dolor de la Santa Casa de Misericordia de São Paulo para tratamiento. Empezó el tratamiento con amitriptilina, gabapentina, opioide y analgésicos sencillos, pero continuó presentando crisis recurrentes de porfiria y como estaba insegura en cuanto a la conducción del caso, abandonó el acompañamiento. CONCLUSIONES: La porfiria es uno de los raros grupos de disturbios enzimáticos que permanecen sin conocerse por una gran parte de los profesionales de la salud. El paciente, al darse cuenta que no conoce la enfermedad, se estresa mucho más y se siente muy inseguro con respecto al tratamiento, dificultando su aplicación y continuidad.