ABSTRACT
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.
Subject(s)
Humans , Female , Child, Preschool , Blister/etiology , Porphyria, Hepatoerythropoietic/complications , Porphyria, Hepatoerythropoietic/genetics , Porphyria, Hepatoerythropoietic/urine , Diabetes Mellitus, Type 1/complications , Hypertrichosis/etiology , Uroporphyrinogen Decarboxylase/analysis , Uroporphyrins/urine , Blister/drug therapy , Coproporphyrins/urine , Hypertrichosis/drug therapyABSTRACT
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.
Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Coproporphyrins/urine , Creatinine/urine , Uroporphyrins/urine , Alcohol Drinking/urine , Brazil , Chromatography, High Pressure Liquid , Reference Values , Smoking/urine , Young AdultABSTRACT
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