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

Porfiria: uma causa rara de abdômen agudo / Porphyria: a rare cause of acute abdomen

É relatado caso clínico de paciente jovem portadora de porfiria aguda intermitente (PAI), cuja apresentação inicial foi de abdômen agudo. O diagnóstico etiológico tardio, depois de duas intervenções cirúrgicas, foi responsável por significativo aumento da morbidade. O objetivo deste relato é alertar os médicos que atendem em serviços de urgência sobre a importância de se considerar o diagnóstico diferencial do abdômen agudo.

This is a case-report of a young female, adult pacient, with intermitent acute porphyria, whose initial presentation was an acute abdomen. The delayed diagnosis, after two surgical interventions, was responsible of increaded morbity. The objective of this report is to warn doctors that works in emergency centers the importance of the diferential diagnosis in the acute abdomen.

Acute intermittent porphyria: diagnosis per chance.

OBJECTIVES: To report a case of acute intermittent porphyria (AIP) diagnosed by chance during routine investigations. CLINICAL PRESENTATION AND INTERVENTION: A 21-year-old female presented with vague gastrointestinal symptoms. Upon admission, she was disoriented. Later she developed generalized seizures and was treated with phenytoin, but the condition worsened. Upon investigation, her liver function, renal function, blood sugar level and electrolytes were within normal limits. When kept for routine laboratory testing, the color change in urine prompted us to investigate for porphyria. It was positive for phorphobilinogen (PBG) and urophorphyrin. Since AIP had been diagnosed, the initial treatment with phenytoin was discontinued with a favorable outcome. A screening test for PBG in urine by Ehrlich's reagent was performed on the patient's mother and was positive. CONCLUSION: A high degree of suspicion at the laboratory can also determine the diagnosis of AIP, which is often missed by the clinician.

Porfiria y embarazo / Porphyria and pregnancy. Review of 17 women

Hormonal changes, prolonged fasting due to vomiting and some medications used during pregnancy, may cause an acute crisis of porphyria, sometimes unveiling a latent disease. Porphyria may also affect the evolution of pregnancy. Aim: To study the reciprocal influence in the evolution of both pregnancy and porphyria. Material and methods: Retrospective review of medical records of women with porphyria followed by the authors. If additional information was required, an additional visit to the clinic was scheduled. The characteristics of pregnancy, delivery and the newborn were analyzed. Results: Information about 60 pregnancies in 17 women aged 18 to 43 years was gathered. Among women with acute porphyria, one with coproporphyria had four pregnancies, nine with variegate porphyria had a total of 34 pregnancies and two with acute intermittent porphyria had six pregnancies. Five women with porphyria cutánea had a total of 16 pregnancies. Influence of porphyria in pregnancy: Compared to the general population, no differences were observed in birth weight of newborns, frequency of gestational hypertension, term or preterm deliveries of live newbornss, spontaneous abortions nor in tubal pregnancies; there was a high frequency of hyperemesis gravidarum. Influence of pregnancy in porphyria: 5 of the 12 patients with acute porphyria, had an acute porphyria crisis, 3 during the puerperal period and 2 during pregnancy (42 percent of women, 11 percent of pregnancies). All these crisis were associated to the administration of medications. All patients survived. Two of these women had six ulterior pregnancies without complications. Conclusions: Women with porphyria that become pregnant have a higher frequency of hyperemesis gravidarum. Crises among women with acute porphyrias, were always associated with the use of potentially dangerous medications.

The syndrome of inappropriate antidiuretic hormone secretion (SIADH) and neurological crisis due to acute intermittent porphyria, successfully treated with haemodialysis.

We report an eighteen year old female, a case of acute intermittent porphyria with syndrome of inappropriate antidiuretic hormone secretion, as presenting feature for its rarity. The neurological crisis was successfully treated with haemodialysis.

Acute intermittent porphyria: an unusual cause of malignant hypertension.

Hypertension is a rare complication of acute intermittent porphyria (AIP) and is related to the sympathetic over-activity seen in this condition. We report a patient with AIP with malignant hypertension that recurred with a subsequent episode. Mechanisms of hypertension and renal damage are discussed.

Respiratory failure in acute intermittent porphyria.

We report two patients of acute intermittent porphyria (AIP) who presented with acute respiratory failure. Only one such previous report could be found. Occasionally, neuropathy may be the presenting feature in AIP which may progress to respiratory embarrassment. The cause of this neuropathy has been hypothesized to be direct neurotoxicity of delta-ALA by interaction with GABA receptor, altered tryptophan metabolism and may be heme depletion in nerve cells.

Acute intermittent porphyria as a cause of acute respiratory failure.

A fatal case of acute intermittent porphyria in a 22 years old Indian male is reported. He presented with abdominal pain and constipation, subsequently developed status epilepticus, acute respiratory failure and quadriparesis. He succumbed to the illness on the twelfth day. Among the neuromuscular causes of acute respiratory failure, requiring ventilatory support, porphyria is a condition potentially treatable, but rarely suspected.