CF is an autosomal recessive disease, requiring mutations to be present in both alleles in the CF transmembrane conductance regulatory gene (CFTR). The c.3274T> C (p.Tyr1092His) mutation is not registered in the “CFTR2 project” database, but it is registered in The Human Gene Mutation Database. Neither are the two DNAAF4 c.1177C> T (p.Leu393Phe) and DNAAF5 c.1195G> A (p.Glu399Lys) mutations found in the "CFTR Project”, and their clinical consequences are currently uncertain. Here, we report the case of a Peruvian woman presenting this mutation, bronchiectasis and loss of lung function and provide a review of the literature.

La isoniazida (INH), desde su descubrimiento en la década de 1950, se constituyó en uno de los medicamentos fundamentales en el tratamiento de la tuberculosis (TB). La actividad bactericida de la INH está dada por la inhibición de la biosíntesis del ácido micólico. La INH es activada por la catalasa peroxidasa sintetizada por el gen KatG y logra su efecto uniéndose al gen InhA del Mycobacterium tuberculosis. A partir de su primer uso, como monoterapia en 1952, se informó rápidamente del desarrollo de resistencia a INH (R-INH). Esta ocurre principalmente por una mutación en dos genes (el katG y/o el inhA). La mutación en el katG confiere R-INH de “alto nivel”; es decir, que la INH se hace ineficaz incluso a altas dosis (HAD) de 15-20 mg/kg/día, aunque se asocia a una sensibilidad de la bacteria a la etionamida (ETO). La mutación del gen inhA, por su parte, causa una resi...

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CF is an autosomal recessive disease, requiring mutations to be present in both alleles in the CF transmembrane conductance regulatory gene (CFTR). The c.3274T> C (p.Tyr1092His) mutation is not registered in the “CFTR2 project” database, but it is registered in The Human Gene Mutation Database. Neither are the two DNAAF4 c.1177C> T (p.Leu393Phe) and DNAAF5 c.1195G> A (p.Glu399Lys) mutations found in the "CFTR Project”, and their clinical consequences are currently uncertain. Here, we report the case of a Peruvian woman presenting this mutation, bronchiectasis and loss of lung function and provide a review of the literature.

Despite being a preventable and curable disease, Tuberculosis continues to be a major global health problem. Worldwide, according to the WHO in 2017 were estimated at 10 million new cases of active tuberculosis, equivalent to 133 cases per 100,000 people; and about 1.3 million deaths in non-HIV patients and 300,000 additional deaths in HIV patients due to this cause, mainly in countries with limited resources. On the other hand, what exacerbates the problem is the emergence of resistance to anti-tuberculous drugs, which complicates the possibilities of treatment. Isoniazid is today one of the fundamental first-line drugs for the management of Tuberculosis, being closely related to the rapid negativization of sputum bacilloscopy, attributed to the potent bactericidal effect on rapidly multiplying strains. vital relevance not only in the control of the disease, but also in the control of t...

Despite being a preventable and curable disease, Tuberculosis continues to be a major global health problem. Worldwide, according to the WHO in 2017 were estimated at 10 million new cases of active tuberculosis, equivalent to 133 cases per 100,000 people; and about 1.3 million deaths in non-HIV patients and 300,000 additional deaths in HIV patients due to this cause, mainly in countries with limited resources. On the other hand, what exacerbates the problem is the emergence of resistance to anti-tuberculous drugs, which complicates the possibilities of treatment. Isoniazid is today one of the fundamental first-line drugs for the management of Tuberculosis, being closely related to the rapid negativization of sputum bacilloscopy, attributed to the potent bactericidal effect on rapidly multiplying strains. vital relevance not only in the control of the disease, but also in the control of t...

SARS-CoV-2 infection is the most important emerging disease of this century. Since its inception to the present, it has caused almost a million deaths worldwide, becoming a real threat to public health. For this reason, new reviews and scientific studies in this regard are extremely important. In the same way, it is known that the main disease caused by this virus is confined to the respiratory system. However, there are still unknown aspects of the disease and within them are extrapulmonary complications. This review attempts to summarize all that is known at the time regarding the disease and its neurological, hematological, cardiological, kidney and liver complications.

SARS-CoV-2 infection is the most important emerging disease of this century. Since its inception to the present, it has caused almost a million deaths worldwide, becoming a real threat to public health. For this reason, new reviews and scientific studies in this regard are extremely important. In the same way, it is known that the main disease caused by this virus is confined to the respiratory system. However, there are still unknown aspects of the disease and within them are extrapulmonary complications. This review attempts to summarize all that is known at the time regarding the disease and its neurological, hematological, cardiological, kidney and liver complications.

The Cystic fibrosis (CF) is an autosomal and recessive genetic disease. It affects much more frequently the population of Caucasian origin, where their incidence ranges from 1 in 3,000 in Caucasians to 1 in 8,000 in newly Hispanic live births. By 2018, 30,775 patients with cystic fibrosis, of them less than 10% of patients worldwide had more 40 years and none had been diagnosed after 40 years of age. We present below the case of a 52-year-old Peruvian adult with CF. This would be one of the patients with the latest diagnosis worldwide and the longest patient in Peru and one of the longest in Latin America.

The Cystic fibrosis (CF) is an autosomal and recessive genetic disease. It affects much more frequently the population of Caucasian origin, where their incidence ranges from 1 in 3,000 in Caucasians to 1 in 8,000 in newly Hispanic live births. By 2018, 30,775 patients with cystic fibrosis, of them less than 10% of patients worldwide had more 40 years and none had been diagnosed after 40 years of age. We present below the case of a 52-year-old Peruvian adult with CF. This would be one of the patients with the latest diagnosis worldwide and the longest patient in Peru and one of the longest in Latin America.