Hereditary coproporhyria

Abstract Hereditary coproporphyria (HCP) is a congenital, autosomal dominant disorder which occurs in approximately two to five people per million inhabitants, worldwide. It is a diagnostic challenge in patients with acute abdominal pain. We present the case of a 17-year-old adolescent who debuted with atypical abdominal pain with no clear etiology. Elevated urinary porphobilinogen was found, which was treated with hematin. A genetic study concluded that the adolescent was a heterozygous carrier of the c.717T>A; p.Cys239 pathogenic nonsense mutation in the CPOX gene, leading to a diagnosis of hereditary copropophyria. The available national literature has presented cases diagnosed with acute intermittent porphyria in patients with abdominal pain of unknown origin, without covering the existing classifications of hepatic porphyrias and without detailing the genetic diagnosis; thus, this case is a contribution to the national case studies. (Acta Med Colomb 2021; 46. DOI:https://doi.org/10.36104/amc.2021.1950).

Uso ambulatorio de cefalosporinas en una población colombiana: estudio de prescripción-indicación / Outpatient cephalosporin use in a Colombian population: prescription-indication study

INTRODUCCIÓN: El uso indebido de cefalosporinas puede provocar resistencia de las bacterias. OBJETIVO: Determinar el perfil de prescripción e indicación de cefalosporinas en un grupo de pacientes afiliados al Sistema de Salud de Colombia. MÉTODOS: Estudio transversal. A partir de una base de datos poblacional se obtuvo una muestra aleatoria de pacientes atendidos en consulta ambulatoria para identificar las indicaciones de cefalosporinas en registros clínicos. Se evaluaron variables farmacológicas relacionadas con formulación no indicada según guías de práctica clínica. RESULTADOS: En 381 pacientes, con edad media 41,2 ± 15,4 años, el 61,4% (n = 234) eran mujeres. Cefalexina fue la más utilizada (n=318; 83,5%), con duración media del tratamiento de 7,3 ± 3,2 días, seguida de cefradina (n = 43, 11,3%) y ceftriaxona (n = 20, 5,2%). Se prescribieron para infecciones de piel y tejidos blandos (n = 177; 46,4%, de las cuales 47,5% eran purulentas), del tracto urinario (n = 70; 18,4%), de vías respiratorias superiores (n = 57; 15,0%), e infecciones de transmisión sexual (n = 21; 5,5%). Estaban indicadas en 169 pacientes (44,4%), pero sólo 103 (60,9%) tenían prescripciones que cumplían las recomendaciones de dosificación. CONCLUSIONES: Más de la mitad de pacientes prescritos con cefalosporinas en un contexto ambulatorio tenían prescripciones consideradas no indicadas, en particular por su uso en infecciones de piel y tejidos blandos purulentas.

BACKGROUND: Misuse of cephalosporins can lead to bacterial resistance. Aim: To determine the prescription profile and indication of cephalosporins in the patients affiliated to the Colombian Health System. METHODS: Cross-sectional study. From a population database, a random sample of patients treated in an outpatient consultation was obtained, to identify the indications of the prescribed cephalosporins in their clinical record. Pharmacological variables, and those related to non-indicated formulations were evaluated according to the clinical practice guidelines. RESULTS: In 381 patients, the mean age was 41.2 ± 15.4 years, and 61.4% (n = 234) were women. Cefalexin was the most widely used (n=318; 83.5%), with a mean duration of treatment of 7.3 ± 3.2 days; followed by cefradine (n = 43; 11.3%), and ceftriaxone (n = 20; 5.2%). The most common uses were for skin and soft tissue infections (n = 177; 46.4% of which 47.5% were purulent), urinary tract infections (n = 70; 18.4%), upper respiratory airway infections (n = 57; 15.0%) and sexually transmitted diseases (n = 21; 5.5%). The use was considered indicated in 169 patients (44.4%), but only 103 (60.9%) had prescriptions that met the dosage recommendations from the clinical practice guidelines. CONCLUSIONS: More than half of the patients prescribed with cephalosporins in the outpatient setting had prescriptions considered not indicated, particularly for their use in purulent skin and soft tissue infections.

[Outpatient cephalosporin use in a Colombian population: prescription-indication study]. / Uso ambulatorio de cefalosporinas en una población colombiana: estudio de prescripción-indicación.

BACKGROUND: Misuse of cephalosporins can lead to bacterial resistance. AIM: To determine the prescription profile and indication of cephalosporins in the patients affiliated to the Colombian Health System. METHODS: Cross-sectional study. From a population database, a random sample of patients treated in an outpatient consultation was obtained, to identify the indications of the prescribed cephalosporins in their clinical record. Pharmacological variables, and those related to non-indicated formulations were evaluated according to the clinical practice guidelines. RESULTS: In 381 patients, the mean age was 41.2 ± 15.4 years, and 61.4% (n = 234) were women. Cefalexin was the most widely used (n=318; 83.5%), with a mean duration of treatment of 7.3 ± 3.2 days; followed by cefradine (n = 43; 11.3%), and ceftriaxone (n = 20; 5.2%). The most common uses were for skin and soft tissue infections (n = 177; 46.4% of which 47.5% were purulent), urinary tract infections (n = 70; 18.4%), upper respiratory airway infections (n = 57; 15.0%) and sexually transmitted diseases (n = 21; 5.5%). The use was considered indicated in 169 patients (44.4%), but only 103 (60.9%) had prescriptions that met the dosage recommendations from the clinical practice guidelines. CONCLUSIONS: More than half of the patients prescribed with cephalosporins in the outpatient setting had prescriptions considered not indicated, particularly for their use in purulent skin and soft tissue infections.