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04123 Early, quick and accurate identification of acute porphyrias in health centers: PBG reagent
  1. María del Carmen Martínez1,2,
  2. Viviana Alicia Melito1,2,
  3. Fabiana Alejandra Caballero1,
  4. Marcelo Guolo1,
  5. Juan Bautista Lucero3,
  6. Walter Schlender3,
  7. Victoria Estela Parera1,
  8. Ana María Buzaleh1
  1. 1Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), UBA -CONICET, Buenos Aires, Argentina
  2. 2Dpto. de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Argentina
  3. 3Tuteur, Buenos Aires, Argentina

Abstract

Clinical features of the acute attack in Acute Porphyrias include neuroabdominal and neurological psychiatric symptomatology. Due to these symptoms are commonly observed in other pathologies, Porphyrias are usually underdiagnosed. They are considered rare diseases with a global prevalence around 0,5–10 per 100000 people worldwide. Acute attacks in latent individuals can be induced by a variety of environmental factors such as medications, stress, ethanol uptake, low carbohydrates diet, nutrition and hormones. Biochemical characterization of acute attacks is the detection of elevated values of urinary aminolevulinic acid and porphobilinogen (PBG). PBG determination is the first approach when an Acute Porphyria is suspected; a positive result leads to an early identification of the disease. The aim was to provide a reagent for PBG that could be available in Argentinean Health Centers in the event of a probable case of Acute Porphyria. For this purpose, an agreement was signed between CONICET and Tuteur (CONVE-2022–102083786-APN-GVT#CO). CIPYP (UBA-CONICET) carried out the assessment about the preparation of the reagent to Farmacoop, a national laboratory who produced and packaged the reagent; we also performed quality and stability analyses. Tuteur take care of the free distribution of the reagent. Experimental design involved stability studies at different store times and temperatures in the final container of PBG reagent (light protected vial) (4°C for one year; room temperature for 30 days; 45°C for one week) evaluating colour, turbidity and pH changes. Moreover, PBG determination was performed in urine of controls and Acute Porphyria individuals during all the different experimental conditions. Results indicated that the reagent is stable at 4°C at least 6 months protected from light. If storing at room temperature is necessary, it must be no more than 4 days. A colour scale was stablished for qualitative results: negative (yellow) or positive (mild to deep pink). We also advised on the design of the packaging and the corresponding data sheet. During 2023–2024 Tuteur distributed 188 PBG reagents (123 in Buenos Aires and 65 in the rest of the country) to 41 public and 36 private Health Centers. Consequently, 5 new patients came to CIPYP for diagnosis of Porphyria. In conclusion, results were evaluated considering country distribution and its contribution to the increase of Acute Porphyria diagnosis. Respect to the total of test distributed, 0.3% became new diagnosis during this first year. Moreover, an increase of inquiries about the disease happened at the time of reagent delivery. We consider that the reagent is a fundamental strategy for Porphyrias diffusion and a relevant tool for Medical Doctors to do a possible pre-diagnosis and without delay contact CIPYP to achieve differential diagnosis, confirming Porphyria crisis to apply the specific treatment.

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