Síndrome de Kartagener: reporte de un caso / Kartagener syndrome: a case report

INTRODUCCIÓN: El Síndrome de Kartagener es una enfermedad hereditaria autosómica recesiva, caracterizada por dextrocardia, bronquiectasias, sinusitis crónica e infertilidad; causada por una mutación en el cromosoma 5p, locus de la proteína dineína, componente de cilios de tracto respiratorio y reproductor, lo que resulta en bajo clearance mucociliar y discinesia primaria. La prevalencia es aproximadamente de 1:10.000 individuos. El diagnóstico es clínico con confirmación mediante exámenes de función y estructura ciliar. PRESENTACIÓN DEL CASO: Paciente sexo masculino, 35 años, con antecedente de Síndrome de Kartagener en tratamiento; consulta en Julio de 2011 en Hospital de Lirquén por dolor en la región mamaria izquierda, irradiado a región infraescapular del mismo lado, punzante, intensidad 7/10, comienzo insidioso y tres días de evolución, acompañado de sensación febril, tercianas, diaforesis y tos húmeda con expectoración mucopurulenta. Examen físico: situs inverso en tórax y abdomen. Examen pulmonar: crépitos bilaterales intensificados en base izquierda, estertores difusos y roncus en ambas bases. Examen de extremidades: acropaquia. A través de radiografía de tórax se diagnostica neumonía. Es hospitalizado en el Servicio de Medicina Hombres para manejo con ceftriaxona endovenosa, inmunosupresores y monitoreo. El paciente evolucionó con buena respuesta, por lo que es dado de alta para continuar con antibióticos orales en domicilio. DISCUSIÓN: Las patologías de inmovilidad ciliar afectan el tracto respiratorio y esperma de estos pacientes. Es útil conocer este diagnóstico ya que permitirá buscar y tratar directamente sus complicaciones, además de ayudar al paciente en las consecuencias psicológicas de la infertilidad.

INTRODUCTION: Kartagener Syndrome is an autosomal recessive inherited disease characterized by dextrocardia, bronchiectasias, chronic sinusitis and infertility, caused by a mutation onchoromosome 5p, locus of dynein protein, component of respiratory cilia and reproductive system, resulting in low mucociliar clearance and primary discinesia. The prevalence is 1:10,000. The clinical diagnosis is confirmed by examination of ciliary structure and function. CASE REPORT: Male patient, 35 years old with a history of Kartagener Syndrome in treatment consults in July at Lirquen Hospital for pain in the left breast area, radiating to infrascapular region of the same side, lancing, intensity 7/10, insidious onset and three days duration, accompanied by feeling feverish, diaphoresis, and productive wet cough. Physical exam: situs inversus in the thorax and abdomen. Pulmonary exam: bilateral crepitus intensified in left base, diffuse rales and rhonchi in both bases; Limbs exam: clubbing. Through chest radiograph was diagnosed with pneumonia. Is hospitalized in Men Medicine Service for intravenous ceftriaxone management, inmunosuppresants, and monitoring. The patient has good response to treatment, so it is discharged to continue with oral antibiotics at home. DISCUSSION: The immotile ciliar diseases affect the respiratory tract and sperm of these patients. It helps to know the diagnosis because it will allow search and efficiently treat complications, besides helping the patient in the psychological consequences of infertility. Spirometry is necessary and chest radiography is warranted in this case for evaluation and study of the infectious respiratory disease that the patient debut.

[D/D genotype of the gene for angiotensin converting enzyme as a risk factor for post-stent coronary restenosis]. / El genotipo D/D del gen de la enzima conversiva de la angiotensina como factor de riesgo de reestenosis post-stent coronario.

INTRODUCTION: Although intracoronary stenting has decreased restenosis rate compared to percutaneous balloon angioplasty, still a high number of patients develop in-stent restenosis, which is an entity primarily due to tissue proliferation. Experimental studies have indicated that the renin-angiotensin system is involved in neointimal hyperplasia. Plasma and cellular levels of ACE are associated with an I/D polymorphism in the ACE gene. Indeed, DD subjects have the higher ACE levels. The purpose of this study was to explore the possibility that the I/D polymorphism might be related with in-stent restenosis. METHODS: We studied the ACE polymorphism in 48 consecutive patients who underwent successful implantation of an elective coronary stent in native coronary vessels and had a 6 month angiographic follow up. Restenosis (50% of the reference vessel) was observed in 23/48 patients. Patients with or without restenosis did not differ in demographic or clinical variables like diabetes, plasma cholesterol levels or in quantitative angiographic parameters such as vessel reference size or minimal lumen diameter after stent implantation. RESULTS: I/D polymorphism was distributed as follows: 22.9% of the patients were D/D; 14.5% were I/I and 62.5% of the patients were heterozygous I/D. The presence of restenosis was strongly related with the I/D polymorphism: 81.8% of the patients with D/D genotype had restenosis, compared with 40.0% of I/D patients and only 14.2% of the I/I patients (chi 2 p < 0.01). CONCLUSIONS: In this limited cohort, homocygous D/D of the ACE gene was significantly associated with in-stent restenosis, whereas restenosis was infrequent in patients with the I/I genotype.