RESUMEN
A male infant presented with progressive jaundice immediately after birth. Fecal acholia and choluria associated with extensive bullous skin lesions in his trunk, abdomen, and upper and lower limbs developed during phototherapy. Several diagnostic hypotheses were presented, including neonatal porphyria, hemochromatosis, Alagille syndrome, and neonatal lupus. A 24-hour urine sample for the dosage of urinary porphyrins was collected, showing high results (1823.6µg in 100mL). At 50 days of life, fluorescence spectroscopy using a Wood's lamp revealed simultaneous bright red fluorescence of urine-stained diapers and sample blood. A definitive diagnosis of congenital erythropoietic porphyria was made following identification of a mutation of the uroporphyrinogen synthetases III gene on genetic testing. The patient was subsequently maintained in a low light environment since then, resulting in improvement of the lesions. Congenital erythropoietic porphyria is a disease of the group of porphyrias that presents shortly after birth with blistering occurring in regions exposed to the sun or other ultraviolet light. Atrophic scars, mutilated fingers, and bright red fluorescence of the urine and teeth may also be observed. There is no specific treatment, and prophylaxis comprising a total avoidance of sunlight is generally recommended. A high degree of suspicion is required for diagnosis. An early diagnosis can lead to less damage. Here, we present the case of a newborn with congenital erythropoietic porphyria diagnosed after presenting with bullous lesions secondary to phototherapy.
Asunto(s)
Lupus Eritematoso Sistémico , Porfiria Eritropoyética , Lactante , Recién Nacido , Humanos , Masculino , Porfiria Eritropoyética/diagnóstico , Porfiria Eritropoyética/genética , Porfiria Eritropoyética/terapia , Vesícula/complicaciones , Fototerapia , Lupus Eritematoso Sistémico/complicaciones , MutaciónRESUMEN
ABSTRACT A male infant presented with progressive jaundice immediately after birth. Fecal acholia and choluria associated with extensive bullous skin lesions in his trunk, abdomen, and upper and lower limbs developed during phototherapy. Several diagnostic hypotheses were presented, including neonatal porphyria, hemochromatosis, Alagille syndrome, and neonatal lupus. A 24-hour urine sample for the dosage of urinary porphyrins was collected, showing high results (1823.6µg in 100mL). At 50 days of life, fluorescence spectroscopy using a Wood's lamp revealed simultaneous bright red fluorescence of urine-stained diapers and sample blood. A definitive diagnosis of congenital erythropoietic porphyria was made following identification of a mutation of the uroporphyrinogen synthetases III gene on genetic testing. The patient was subsequently maintained in a low light environment since then, resulting in improvement of the lesions. Congenital erythropoietic porphyria is a disease of the group of porphyrias that presents shortly after birth with blistering occurring in regions exposed to the sun or other ultraviolet light. Atrophic scars, mutilated fingers, and bright red fluorescence of the urine and teeth may also be observed. There is no specific treatment, and prophylaxis comprising a total avoidance of sunlight is generally recommended. A high degree of suspicion is required for diagnosis. An early diagnosis can lead to less damage. Here, we present the case of a newborn with congenital erythropoietic porphyria diagnosed after presenting with bullous lesions secondary to phototherapy.
RESUMEN
JUSTIFICATIVA E OBJETIVOS: As doenças cardiovascularessão a causa isolada de morte mais comum no mundo desenvolvidoe no Brasil. Desta forma, é necessário intervir em seusfatores de risco com uma modificação do estilo de vida e adesãoao tratamento. No entanto, estima-se que aproximadamente85% dos pacientes não são aderentes em algum momento desua doença. A proposta deste estudo consiste em identificar osprincipais motivos para essa não adesão nos pacientes do Ambulatóriode Reabilitação do Centro Universitário São Camilo.MÉTODOS: Foi realizado um estudo observacional através deum questionário que aborda a presença de fatores de risco cardiovasculare motivos desencadeantes para uma dificuldade naadesão ao tratamento. Participaram 100 indivíduos, sendo que44 homens e 56 mulheres, com idade média de 55,48 anos. Foinotada uma taxa de 82% de sedentarismo, 50% de hipertensos,22% de diabéticos, 31% de dislipidêmicos, 9% de fumantes,42% de obesos, 6% sem fator de risco e 12% com histórico dedoença cardiovascular. RESULTADOS: No final, 15% dos pacienteseram aderentes ao tratamento proposto, com uma maioraderência ao tratamento da hipertensão arterial e uma menor aprática de exercícios físicos, sendo a mudança de estilo de vida,a dificuldade mais citada. CONCLUSÕES: Este estudo reafirmaa baixa aderência dos pacientes ao tratamento das doençascardiovasculares, especialmente na mudança da rotina, de modo que o profissional da área da saúde tem papel fundamental noincremento da adesão, ao orientar corretamente o doente, tirandosuas dúvidas e estreitando a relação médico-paciente.(AU)
BACKGROUND AND OBJECTIVES: Cardiovascular diseasesare the most common single cause of death in the developedworld and in Brazil. In this way, it?s necessary a interventionon their risk factors with changes in life style and adherence totreatment. However it?s estimated that around 85% of patientsmay not adhere to it at some point in their disease. The purpose ofthis study is to identify the main reasons for this non-adherencein patients attending the Rehabilitation Ambulatory of CentroUniversitário São Camilo. METHODS: An observational studywas carried out through a questionnaire that addresses thepresence of cardiovascular risk factors and reasons for triggeringa difficulty in adherence to the treatment. 100 people attended,of which 44 males and 56 females with age of 55,48 years.A rate of 82% of sedentary was noted, 50% hypertensive,22% diabetic, 31% dyslipidemic, 9% smokers, 42% obese,6% without risk factor and 12% with cardiovascular disease.RESULTS: Overall, 15% of the patients were adhering to theproposed treatment, with a greater adherence to the treatmentof hypertension and a lower to the practice of physical exercises,and that the difficult to adhere to the treatment, the most citedwere the ones. CONCLUSIONS: This study reaffirms the lowadherence of patients to the cardiovascular diseases treatment mainly on regarding life style changes, thus the health careprofessional has a fundamental role in the increase of adherencein order to correctly guide the ill patient, clarifying their doubtsand building a doctor-patient relationship.(AU)