Porfiria hepato eritropoyética asociada a diabetes mellitus tipo 1: a propósito de un caso clínico / A clinical case of hepato-erythropoietic porphyria associated with type 1 diabetes mellitus / Relato de caso de porfiria hepato-eritropoiética associada a diabetes mellitus tipo 1

Las porfirias son un grupo complejo y heterogéneo de defectos en la vía de la síntesis del hemo. La porfiria hepato eritropoyética es un subtipo muy poco frecuente y de presentación en la infancia, con compromiso cutáneo predominante. Describimos el caso clínico de una paciente de 5 años, que se presenta con lesiones cutáneas e hipertricosis, se confirma el diagnóstico por elevación de uroporfirinas en orina y secuenciación del gen UROD.

Porphyria is a complex and heterogeneous group of heme synthesis disorder. Hepato-erythropoietic porphyria is a very rare subtype that onsets in childhood, and shows predominant skin involvement. We describe the clinical case of a 5-year-old patient who showed skin lesions and hypertrichosis and whose diagnosis was confirmed due to increased uroporphyrins in urine and UROD gene sequencing

A porfiria é um grupo complexo e heterogêneo de distúrbios da síntese do grupo heme. A porfiria hepato-eritropoiética é um subtipo muito raro que se inicia na infância e mostra envolvimento predominante da pele. Descrevemos o caso clínico de uma paciente de 5 anos que apresentou lesões cutâneas e hipertricose e cujo diagnóstico foi confirmado por aumento de uroporfirinas na urina e sequenciamento do gene UROD.

Spot urine porphyrins/creatinine ratio profile of healthy Brazilian individuals adjusted for personal habits

Changes in urinary porphyrin excretion may be the result of hereditary causes and/or from environmental or occupational exposure. The objective of this study was to measure the amount of some porphyrins in spot urine samples obtained from volunteers randomly selected from a healthy adult population of São Paulo with a sensitive HPLC method and to estimate normal ranges for a non-exposed population. Spot urine samples were collected from 126 subjects (both genders, 18 to 65 years old) not occupationally exposed to porphyrinogenic agents. Porphyrin fractions were separated on RP-18 HPLC column eluted with a methanol/ammonium acetate buffer gradient, pH 4.0, and measured fluorometrically (excitation 405 nm/emission 620 nm). The amount of porphyrins was corrected for urinary creatinine excretion. Only 8-carboxyl (uro) and 4-carboxyl (copro) porphyrins were quantified as µg/g creatinine. Data regarding age, gender, occupational activities, smoking and drinking habits were analyzed by Mann-Whitney and Kruskal-Wallis tests. Uroporphyrin results did not differ significantly between the subgroups studied. Copro and uro + copro porphyrins were significantly different for smokers (P = 0.008) and occupational activities (P = 0.004). With respect to alcohol consumption, only men drinking >20 g/week showed significant differences in the levels of copro (P = 0.022) and uro + copro porphyrins (P = 0.012). The 2.5-97.5th percentile limit values, excluding those for subjects with an alcohol drinking habit >20 g/week, were 0-20.8, 11.7-93.1, and 15.9-102.9 µg/g creatinine for uro, copro and uro + copro porphyrins, respectively. These percentile limit values can be proposed as a first attempt to provide urinary porphyrin reference values for our population, serving for an early diagnosis of porphyrinopathies or as biomarkers of exposure to porphyrinogenic agents.

Quantificaçäo de uro e coproporfirinas urinárias em fotodermatoses / Quantification of urinary uro coproporphyrins in photodermatitis

Conhecendo que as porfirinas (uroporfirina), quando acumuladas na pele agem como cromóforos, que interagindo com a energia luminosa produzem lesöes fotoquímicas que se manifestam por eritema, edema e bolhas em áreas expostas a luz, e ainda que o mecanismo de formaçäo destas lesöes fotossensíveis näo está bem esclarecido, foram quantificadas as uro e coproporfirinas urinárias em fotodermatoses, excluindo as porfirias, especialmente, porfiria cutânea tardia, na qual a manifestaçäo cutânea está relacionada a níveis elevados de porfirinas, principalmente de uroporfirina. Estudou-se os níveis destas porfirinas em 58 pacientes subdivididos em grupos, segundo a fotodermatose: 1. 21 com pelagra; 2. 15 com forodermatite medicamentosa; 3. 14 transplantados renais (pseudoporfiria?); 4. cinco com lúpus eritematoso cutâneo/sistêmico e 5. três com lucite. Observou-se aumento de porfirinas em 17% do total dos doentes, sendo encontrado níveis aumentados de uroporfirinas urinárias nos grupos 1 e 2. Na pelagra houve aumento em 33% (7/2) dos doentes e em pacientes com fotodermatite medicamentosa 20% (3/15). Os resultados sugerem que as porfirinas urinárias, principalmente as uroporfirinas, podem estar envolvidas na patogênese da pelagra e da fotodermatite medicamentosa, talvez por acometimento da funçäo hepática provocado pelo etilismo crônico, hábito comum em doentes de pelagra, ou uso de medicamentos

Intoxicación plúmbica en obreros de talleres de desabolladura y pintura automotriz

Esta investigación es una evaluación del riesgo laboral de intoxicación por plomo en 66 obreros de diez talleres de desabolladura y pintura automotriz en la ciudad de Santo Domingo. El 55% de la población estudiada tenía niveles sanguíneos de plomo (PbH) correspondientes a exposición laboral y el 45% alcanzó cifras de toxicidad (mayores de 30 mcg/100 ml). Los niveles de toxicidad encontrados fueron más frecuentes en los pintores (58%) que en los desabolladores (35%), y los obreros con 1-5 años de trabajo presentaron las cifras más elevadas. El 27% de los obreros presentó Coproporfirina Urinaria (CPU) positiva, y el 60% tuvo uno o más síntomas de intoxicación por plomo. Los síntomas dominantes fueron epigastralgia, cefalea y cólicos abdominales, apareciendo casi invariablemente en aquellos trabajadores con más de un año de exposición, y se correlacionaron con valores elevados de PbH. La falta de proteción adecuada, el desconocimiento del riesgo laborial y la larga jornada de trabajo (10 horas) son los principales factores asociados al envenenamiento por plomo en el grupo estudiado

Chronic industrial exposure to lead in 63 subjects. I. Clinical and erythrokinetic findings.

Clinical, biochemical, haematological and erythrokinetic studies were performed on 63 adult males with prolonged lead exposure. Their most common symptoms and findings were abdominal pain (62%), gingival lead lines (48%), headache and/or dizziness (33%), muscle cramps (32%), anaemia (19%), and fatigue (18%). Colicky abdominal pain (27%) and gingival lead lines correlated with urinary lead excretion. Anaemia was mild, but more frequent in the subjects with the greatest urinary lead excretion. Other associated findings were: higher reticulocyte counts and more basophilic stippling of the RBCs, more sideroblasts and greater erythroid hyperplasia of the bone marrow, more reduction in 51Cr-tagged RBC survival time, smaller RBC mass, a more rapid plasma iron clearance, a greater plasma iron turnover and greater utilization of 59Fe in subjects with urinary lead excretion of greater than 100 microng/day in comparison with the remainder and normal controls. These findings suggest that minimal chronic exposure to lead causes an increased haemolysis with resulting increased production of erythrocytes.