Research Progress in Pathogenesis of Hypertension in Acute Intermittent Porphyria / 中国医学科学院学报

Acute intermittent porphyria (AIP) has complicated clinical manifestations and is often accompanied by hypertension.AIP may cause hypertension through adrenergic effect,heme deficiency,inflammation,inappropriate secretion of antidiuretic hormone,toxicity of delta-aminolevulinic acid(ALA,aporphyrin precursor),and elevated serum glucose level.The prevention and treatment strategies for AIP accompanied with hypertension mainly include the controlling of porphyria attacks,application of antihypertensive drugs,lifestyle intervention,and management of latent AIP patients.

Refractory hyponatremia caused by acute intermittent porphyria / 中华内分泌代谢杂志

Hyponatremia is common in the attack of acute intermittent porphyria(AIP), which can cause epilepsy, coma and other adverse events and endanger the life of patients. Carbohydrate loading therapy is applied to control the attack of AIP in the clinic. But the application of glucose can exacerbate hyponatremia. It is difficult for clinicians to effectively correct hyponatremia while treating AIP with glucose. We reported a case of AIP whose refractory hyponatremia was corrected with short-term low-dose tolvaptan to improve knowledge in management.

A severe acute intermittent porphyria patient: Successful treatment and management / 中华内分泌代谢杂志

Acute intermittent porphyria(AIP) is a rare inherited metabolic disease that can cause severe and fatal acute attacks. This article shares the treatment and management of a severe AIP patient. It is proposed that (1) avoiding incentives is essential; (2) emotional problems easily overlooked should be paid attention; (3) long-term follow-up and patient education can improve the prognosis. The patient underwent renal biopsy during the remission period. We found a red-brown-yellow-white refractive index crystal under a polarized light microscope that had not been reported in the previous literature, which was speculated to be a porphyrin crystal.

Acute hepatic porphyria: when to perform liver transplantation?

. (AU)Acute hepatic porphyrias (AHPs) are inborn errors of hemebiosynthesis and its most common and severe type is the acute intermittent porphyria (AIP). AIP is an hereditary autosomal dominant disease caused by accumulated porphobilinogen deaminase (PBG) and delta aminolevulin acid (ALA) products. The main symptoms are severe abdominal pain, neuromuscular and psychiatric disturbances, nausea, vomiting, encephalopathy, tachycardia, seizures, tremors and hypertension, that usually are manifested by acute crises. The treatment is based on clinical management and in cases which the patient's quality of life is affected liver transplantation (LT) may be an alternative choice. We report the case of a patient with AHP presenting recurrent crisis leading to chronic symptoms occurrence and poor quality of life with progressive unresponsiveness to hemin treatment. Patient was submitted to LT as curative therapy proposal, but patient still presents some clinical manifestations that may indicate the possibility of a secondary cause to explain persistence of her symptoms despite of biochemical normalization of ALA and PBG. (AU)

As porfirias hepáticas agudas (PHA) compreendem um grupo de porfirias que apresentam erros inatos na biossíntese do grupo heme, sendo a mais severa e o tipo mais comum da PHA, a porfiria aguda intermitente (PAI). A PAI é uma doença autossômica dominante causada pelo acúmulo dos produtos porfobilinogênio deaminase (PBG) e ácido delta-aminolevulínico (ALA). Os principais sintomas são dor abdominal intensa, distúrbios neuromusculares e psiquiátricos, náuseas, vômitos, encefalopatia, taquicardia, febre, tremores e hipertensão, os quais normalmente são manifestados durante as crises agudas. O tratamento é baseado no manejo clínico de todos pacientes durante a crise. Para os casos em que a qualidade de vida do paciente é afetada negativamente, a terapêutica de transplante hepático poderá ser indicada. O objetivo do relato de caso é introduzir o tratamento de uma paciente com recorrentes crises agudas de porfiria e danos em sua qualidade de vida. Uma vez que a paciente não apresentou melhora após tratamento com hematina, foi submetida ao transplante hepático visando a cura da doença. Após o transplante, a paciente ainda apresentou alguns sintomas clínicos, necessitando reformular uma segunda hipótese para explicar a persistência de tais sintomas apesar da normalização dos níveis de ALA e PBG. (AU)

Use of sugammadex in acute intermittent porphyria / Uso de sugammadex en la porfiria aguda intermitente

Abstract: Porphyrias are a group of rare diseases, which include acute intermittent porphyria. It is essential for the anesthesiologist to identify acute porphyrias and to recognize a porphyric crises. These can be triggered by several factors, which can be present throughout the perioperative period. A 70-year-old male, ASA III, with a personal history of acute intermittent porphyria and ischemic heart disease, scheduled for laparoscopic sigmoidectomy. Prolonged fasting, dehydration and potentially porphyrinogenic drugs were avoided. General anesthesia was induced with fentanyl, lidocaine, propofol and rocuronium and maintained with desflurane. The decision to reverse the neuromuscular blockade with sugammadex was considered due to the benefits over risks of this drug when compared to neostigmine (associated with atropine) and the description of its use without harm in two cases of variegate porphyria. The following paper emphasize the importance of careful anesthetic management throughout the perioperative period and describe a case of successful reversal of neuromuscular block with sugammadex, highlighting this case as the first case reported of its use in acute intermittent porphyria.

Resumen: Las porfirias son un grupo de enfermedades raras, entre las que se encuentra la porfiria aguda intermitente. Es fundamental que el anestesista identifique las porfirias agudas y reconozca una crisis porfírica. Éstos pueden ser desencadenados por varios factores, que pueden estar presentes durante todo el periodo perioperatorio. Varón de 70 años, ASA III, con antecedentes personales de porfiria aguda intermitente y cardiopatía isquémica, programado para sigmoidectomía laparoscópica. Se evitó el ayuno prolongado, la deshidratación y los fármacos potencialmente porfirinógenos. La anestesia general se indujo con fentanilo, lidocaína, propofol y rocuronio y se mantuvo con desflurano. La decisión de revertir el bloqueo neuromuscular con sugammadex se consideró debido a los beneficios sobre los riesgos de este fármaco en comparación con la neostigmina (asociada con la atropina) y a la descripción de su uso sin daños en dos casos de porfiria variegada. El siguiente artículo enfatiza la importancia de un manejo anestésico cuidadoso durante todo el periodo perioperatorio y describe un caso de reversión exitosa del bloqueo neuromuscular con sugammadex, destacando este caso como el primero reportado de su uso en porfiria aguda intermitente.

Acute hepatic porphyrias for the neurologist: current concepts and perspectives / Porfirias hepáticas agudas para o neurologista: conceitos atuais e perspectivas

ABSTRACT Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients. Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.

RESUMO Introdução: As porfirias hepáticas agudas representam um grupo de doenças metabólicas hereditárias complexas em expansão, decorrentes de erros inatos do metabolismo, envolvendo a via de biossíntese do grupamento heme. Objetivo: realizar revisão dos principais aspectos clínicos e terapêuticos associados com as porfirias hepáticas agudas. Métodos: Os autores realizaram ampla revisão não-sistemática sobre conceitos atuais e conhecimentos recentemente adquiridos. Resultados: Ataques neuroviscerais agudos representam a apresentação clínica mais comum e de maior risco, e são comumente considerados como principal manifestação na prática clínica durante o diagnóstico diferencial e início apropriado da investigação diagnóstica para porfirias agudas. Entretanto, apresentações atípicas com envolvimento do sistema nervoso central, alterações neuropsiquiátricas e alguns subtipos com fotossensibilidade fazem com que o diagnóstico definitivo seja comumente difícil e tardio. As intervenções terapêuticas precoces são essenciais durante o tratamento emergencial e em período intercrítico evitando formas recorrentes graves. A disponibilidade de novas propostas terapêuticas modificadoras de doença baseadas em terapias com pequenas moléculas de RNA de interferência (siRNA) complementares aos clássicos tratamentos com infusão de glicose intravenosa e à base de hemina enfatiza a importância do diagnóstico precoce de tais pacientes e do aconselhamento genético. Conclusões: Este artigo de revisão destaca os principais aspectos bioquímicos, fisiopatológicos, clínicos e terapêuticos das porfirias hepáticas agudas na prática clínica.

Acute Intermittent Porphyria: A rare cause of hyponatraemia

@#Introduction: Hyponatraemia is one of the most frequent laboratory findings in hospitalised patients. We present an unusual case of hyponatraemia in a 23-year-old female secondary to acute intermittent porphyria (AIP), a rare inborn error of metabolism. Case Report: The patient presented with upper respiratory tract infection, fever, seizures and abdominal pain. An initial diagnosis of encephalitis was made. In view of the unexplained abdominal pain with other clinical findings such as posterior reversible encephalopathy syndrome by CT brain, temporary blindness as well as hyponatraemia, acute intermittent porphyria was suspected. Urine delta aminolaevulinic acid (δ-ALA) and porphobilinogen were elevated confirming the diagnosis of AIP. Genetic studies were done for this patient. The patient had a complete resolution of her symptoms with carbohydrate loading and high caloric diet. Conclusion: Although rare, AIP should be considered as a cause of hyponatraemia in a patient who presents with signs and/or symptoms that are characteristic of this disease.

Avances en el diagnóstico y tratamiento de la porfiria intermitente aguda / Advances in diagnosis and treatment of acute intermittent porphyria

Resumen: La porfiria intermitente aguda es la más frecuente de las porfirias hepáticas agudas. Ésta es causada por mutaciones de herencia autosómica dominante en el gen HMBS, que generan déficit de la enzima porfobilinógeno desaminasa en la vía biosintética del grupo hemo. Se caracteriza por síntomas neuroviscerales potencialmente letales, que incluyen dolor abdominal, vómito, estreñimiento, debilidad muscular, convulsiones. Estos ataques son desencadenados por medicamentos, ayuno, alcohol, cambios hormonales, estrés, entre otros. Su tratamiento incluye altas cargas de carbohidratos, hemina intravenosa y soporte médico. Algunos pacientes que padecen ataques agudos recurrentes pueden requerir hemina profiláctica o análogos de la hormona liberadora de gonadotropina. El trasplante hepático está indicado para los pacientes resistentes a esos tratamientos. Las complicaciones crónicas de la enfermedad incluyen carcinoma hepatocelular, hipertensión arterial, enfermedad renal crónica y dolor crónico.

Abstract: Acute intermittent porphyria is the most frequent of the acute hepatic porphyrias. This is caused by mutations of autosomal dominant inheritance in the HMBS gene, which generate a deficiency of the enzyme porphobilinogen deaminase in the biosynthetic pathway of the heme group. It is characterized by potentially life-threatening neurovisceral symptoms, including abdominal pain, vomiting, constipation, muscle weakness and seizures. Such attacks are triggered by medications, fasting, alcohol, hormonal changes, stress, among others. Its treatment includes high carbohydrate loads, intravenous hemin, and medical support. Some patients who develop recurrent acute attacks may require prophylactic hemin or gonadotropin-releasing hormone analogs. Liver transplantation is indicated for patients refractory to those treatments. Chronic complications of the disease include hepatocellular carcinoma, hypertension, chronic kidney disease, and chronic pain.

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).

Anesthetic implication of tricuspid valve replacement in a patient with acute intermittent porphyria.

Facing a patient with acute intermittent porphyria (AIP), there is narrow safety margin which circumscribe all the therapeutic actions including choice of drugs. This would become even more complicated when it comes to a stressful and drug‑dependent process like a cardiopulmonary bypass. According to author’s researches, no specific AIP case of tricuspid valve (TV) replacement is reported recently. Furthermore, fast‑track anesthesia was safely used in this 37‑year‑old male known the case of AIP, who was a candidate for TV replacement and removing the port catheter. The patient was extubated subsequently, only 3 h after entering the Intensive Care Unit.

Porfiria aguda intermitente y su relación con el síndrome de encefalopatía posterior reversible: reporte de caso / Acute Intermittent Porphyria and it´s relationship with Posterior Reversible Encephalopathy Syndrome: Case Report

Las porfirias son un grupo heterogéneo de trastornos del metabolismo en el cual hay una deficiencia enzimática específica necesaria en la biosíntesis del grupo hemo. Dentro de estas se destaca la porfiria aguda intermitente como la forma más común, que se caracteriza por episodios de exacerbación o crisis neuroviscerales. Las manifestaciones clínicas son amplias, sin embargo, la presentación con síntomas del sistema nervioso central a diferencia de los síntomas disautonómicos o neuropáticos son poco frecuentes. Reportamos un caso que resalta la relación infrecuente entre la porfiria aguda intermitente y el síndrome de encefalopatía posterior reversible. Paciente femenina de 18 años con dolor abdominal persistente severo, hipertensión arterial, convulsiones, ceguera cortical y neuropatía axonal motora. Se le realizó una resonancia magnética nuclear (RMN) contrastada que evidenció lesiones hiperintensas corticales y cortico-subcorticales sugestivas de edema vasogénico, compatibles con síndrome de encefalopatía posterior reversible. Se hizo el diagnóstico de porfiria aguda intermitente por elevados niveles de resonancia magnética nuclear (PBG) y ácido 5-amino-levulínico (ALA) en orina y se inició tratamiento con hematina, terapia parenteral hiperglucida y el retiro de agentes porfirinogénicos. Los síntomas centrales así como los hallazgos imagenológicos se resolvieron de forma adecuada con el tratamiento. Este caso resalta la relación inusual entre la porfiria aguda intermitente y el síndrome de encefalopatía posterior reversible, en una paciente con crisis de dolor abdominal persistente, disautonomía, convulsiones, ceguera cortical y neuropatía axonal motora, síntomas que asociados nos deben sugerir estos diagnósticos.

The porphyrias are a heterogeneous group of metabolism disorders in which there is an enzymatic deficiency necessary for the pathway of heme biosynthesis. Within this group, Acute Intermittent Porphyria (AIP) is the most common disorder, characterized by episodes of neuro-visceral crisis. The clinical manifestation spectrum is wide, however symptoms originating from Central Nervous System (CNS) dysfunction are rare. We report a case that shows the infrequent relationship between AIP and Posterior Reversible Encephalopathy Syndrome (PRES) An 18-year-old female patient presented with severe persistent abdominal pain, hypertension, seizures, cortical blindness and motor axonal neuropathy. A brain contrasted MRI evidenced a cortical and cortico-subcortical high intensity lesion suggestive of vasogenic edema in frontal, parietal and occipital lobes, compatible with PRES. A diagnosis of AIP was also made due to high levels of PBG and ALA in the urine. Treatment consisted of hematin, intravenous sugar solution and the withdrawal of porphyrinogenic agents. The CNS-related symptoms and the brain lesions shown via imaging resolved appropriately with treatment. This case shows the unusual relationship between AIP and PRES, in a patient that presented with persistent abdominal pain, dysautonomia, seizures, cortical blindness and motor axonal neuropathy, symptoms that, as a whole, can suggest this diagnosis.

Porfiria aguda intermitente la importancia de ampliar la perspectiva del diagnóstico diferencial / Acute intermittent porphyriathe importance of expanding the differential diagnosis perspective

La porfiria aguda intermitente es un trastorno autosómico dominante, producido por deficiencia genética de porfobilinogeno desaminasa, enzima que participa en la biosíntesis del grupo hem, es una patología con elevada mortalidad, y poco observada en nuestro medio. En octubre del 2011, en el Hospital del Seguro Social Universitario se reportó un caso de porfiria aguda intermitente, paciente de 23 años, sexo femenino, ingresa con dolor abdominal agudo de gran intensidad a nivel de mesogastrio y síndrome miccional, durante su internación presento taquicardia, fiebre y leucocitosis sin foco infeccioso aparente, llevando Insuficiencia renal aguda, acidosis metabólica y neuropatía periférica. Las sintomatología inespecífica plantea patologías quirúrgicas o médicas, que requieren análisis exhaustivo para la aproximación diagnostica, mediante prueba de fotosensibilidad en orina se sospecha el diagnóstico definitivo, la cual se confirmó con la determinación de porfirinas totales en sangre y en orina, de porfobilinógeno y de ácido delta - aminolevulínico en orina realizada en Buenos Aires donde recibió tratamiento oportuno.

Acute intermittent porphyria is an autosomal dominant disorder, caused by genetic deficiency of porphobilinogen deaminase, an enzyme involved in the biosynthesis of heme, is a disease with high mortality, and rarely (onot common) observed in our country. In October 2011, the Social Security Hospital Universitario reported a case of acute intermittent porphyria, 23 year old patient, female, admitted with acute abdominal pain of ahigh level of intensity in mesogastrium. In addition to this, symptoms are tachycardia with continouos precense during hospitalization, fever and leukocytosis without apparent infectious focus, leading acute renal failure, metabolic acidosis and peripheral neuropathy. The specific symptoms sugestor pathologies that carefal analysis to approximate diagnos is by urine photosensitivity the definitive diagnosis, which was confirmed by the determination of total porphyrins in blood and urine and porphobilinogen and delta-aminolevulinic acid in urine made in Buenos Aires where patient received timely treatment.

Acute Intermittent Porphyria Presented with Recurrent Abdominal Pain and Hypertension / 대한소아소화기영양학회지

Acute intermittent porphyria (AIP) is a rare disorder characterized biochemically by the increased excretion of porphyrins and porphyrin precursors, including delta-aminolevulinic acid (ALA) and porphobilinogen (PBG). AIP has variable clinical manifestations, such as acute abdominal pain, vomiting, nausea, constipation, peripheral neuropathy, seizures, tachycardia, and hypertension. A 16-year-old girl presented with recurrent abdominal pain, vomiting, hypertension, seizures, hypercholesterolemia, and red urine. AIP was confirmed by clinical features and increased 24-hour urine ALA and PBG. AIP should be considered in the differential diagnosis of patients who have abdominal pain, hypertension, and seizures when the results of all other tests are normal.

A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria

Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.3. We describe a novel mutation of the HMBS gene, a de novo 3-base deletion in the splicing donor site of intron 3 (IVS3+2_4delTGG) in a woman affected by AIP. RT-PCR analysis revealed an abnormal HMBS mRNA, compatible with exon 3 skipping.

A Case of Porphyria Presented During Management of Acute Upper Respiratory Infection

A 34-year old woman visited the hospital complaining severe general pain which had onset on the way of improvement of sore throat, cough with sputum as symptoms of acute upper respiratory infection for 3 days. The facts that her younger sister also had a history of porphyria and the color of the patient's urine changed to dark black after it had exposed to sunlight made us to rule out porphyria strongly. Therefore, we measured the level of delta-ALA and porphobilinogen in the collected urine during 24 hours, and confirmed her diagnosis as acute intermittent porphyria. The SIADH was complicated and the sleep disturbance, disorientation and hallucination onset during the hospital days. She had taken high dose dextrose IV and hematin IV therapy for porphyria and improved gradually. Therefore, authors et al. report a case of acute intermittent porphyria with various clinical symptoms on the way of treatment of upper respiratory infection as well as review the previous literatures.

Gene-environmental interactions: Lessons from porphyria

The porphyrias are uncommon, complex, and fascinating metabolic conditions, caused by deficiencies in the activities of the enzymes of the heme biosynthetic pathway. Two cardinal symptoms of the porphyrias are cutaneous photosensitivity and neurologic disturbances. Molecular analysis of gene defects has shown that there are multiple and heterogeneous mutations in each porphyria. Patients with symptomatic porphyria can suffer greatly, and, in rare cases, may die. While congenital porphyrias are inherited, other forms of porphyria occur as acquired diseases. In addition, not all gene carriers of inherited porphyrias develop clinical disease and there is a significant interplay between the gene defect and acquired or environmental factors. The variable response of porphyrias to acquired factors may, likely reflect genetic polymorphisms in drug metabolism. The lessons from acute hepatic porphyria, such as acute intermittent porphyria, are very useful in clarifying the complex nature of the clinical expression of metabolic disorders.

Neurological Manifestations of Acute Intermittent Porphyria

BACKGROUND: Acute intermittent porphyria (AIP) is an autosomal dominant disorder characterized by recurrent abdominal pain with neuropsychiatric symptoms and motor dominant polyneuropathy. The purpose of this study is to characterize neurological manifestations and clinical course of AIP in Korean. METHODS: Medical records from 1984 to 2001 were reviewed retrospectively. There were 23 cases of laboratory confirmed AIP. RESULTS: The clinical characteristics of AIP are the acute abdominal pain without fever or leukocytosis. Neuropsychiatric symptoms or polyneuropathy occurred in 13 cases (56.5%). Among the 13 cases, there were 4 cases with neuropsychiatric symptoms only, 3 with polyneuropathy only and 6 with both of them. Polyneuropathy was usually preceded by neuropsychiatric symptoms. Severe sensori-motor polyneuropathy with respiratory failure occurred in 4 cases, where one expired. Hyponatremia was seen in 14 cases (60.8%) and 7 of them had the neuropsychiatric symptoms. CONCLUSIONS: The clinical characteristics of AIP include acute abdominal pain without leukocytosis or fever, and hyponateremia. The neuropsychiatric symptoms and peripheral neuropathy in AIP may occur by improper treatment for the acute abdominal pain, and can worsen by wrong treatment without clinical suspicion.

Gene-Environmental Interactions: Lessons from Porphyria

The porphyrias are uncommon, complex, and fascinating metabolic conditions, caused by deficiencies in the activities of the enzymes of the heme biosynthetic pathway. Two cardinal symptoms of the porphyrias are cutaneous photosensitivity and neurologic disturbances. Molecular analysis of gene defects has shown that there are multiple and heterogeneous mutations in each porphyria. Patients with symptomatic porphyria can suffer greatly, and, in rare cases, may die. While congenital porphyrias are inherited, other forms of porphyria occur as acquired diseases. In addition, not all gene carriers of inherited porphyrias develop clinical disease and there is a significant interplay between the gene defect and acquired or environmental factors. The variable response of porphyrias to acquired factors may likely reflect genetic polymorphisms in drug metabolism. The lessons from acute hepatic porphyria, such as acute intermittent porphyria, are very useful in clarifying the complex nature of the clinical expression of metabolic disorders.

A Case of Acute Intermittent Porphyria in Pregnancy / 대한산부인과학회잡지

No abstract available.