Multidisciplinary approach for patients with nephropathic cystinosis: model for care in a rare and chronic renal disease / Abordagem multidisciplinar para pacientes com cistinose nefropática: modelo para atendimento em uma doença renal rara e crônica

Abstract Care for patients with chronic and rare diseases is complex, especially considering the lack of knowledge about the disease, which makes early and precise diagnosis difficult, as well as the need for specific tests, sometimes of high complexity and cost. Added to these factors are difficulties in obtaining adequate treatment when available, in raising patient and family awareness about the disease and treatment compliance. Nephropathic cystinosis is among these diseases. After more than 20 years as a care center for these patients, the authors propose a follow-up protocol, which has been used with improvement in the quality of care and consists of a multidisciplinary approach, including care provided by a physician, nurse, psychologist, nutritionist and social worker. In this paper, each field objectively exposes how to address points that involve the stages of diagnosis and its communication with the patient and their relatives or guardians, covering the particularities of the disease and the treatment, the impact on the lives of patients and families, the approach to psychological and social issues and guidelines on medications and diets. This protocol could be adapted to the follow-up of patients with other rare diseases, including those with renal involvement. This proposal is expected to reach the largest number of professionals involved in the follow-up of these patients, strengthening the bases for the creation of a national protocol, observing the particularities of each case.

Resumo A assistência a pacientes com doenças crônicas e raras é complexa, principalmente pela falta de disseminação de conhecimento sobre a doença, o que dificulta o diagnóstico preciso e precoce, além da necessidade da realização de exames específicos, por vezes de alta complexidade e custo. Somam-se a esses fatores dificuldades na obtenção de tratamento adequado quando disponível, na conscientização do paciente e da família sobre a doença e na aderência ao tratamento. A cistinose nefropática está entre essas doenças. Após mais de 20 anos como centro de atendimento a esses pacientes, os autores propõem um protocolo de seguimento, o qual vem sendo empregado com melhora na qualidade da assistência e consiste de uma abordagem multidisciplinar, incluindo, principalmente, atendimento prestado por médico, enfermeiro, psicólogo, nutricionista e assistente social. Neste artigo, cada área expõe de maneira objetiva como abordar pontos que envolvem as etapas do diagnóstico e sua comunicação ao paciente e a seus familiares ou responsáveis, abrangendo as particularidades da doença e do tratamento, o impacto na vida do paciente e de sua família, a abordagem das questões psicológicas e sociais e orientações quanto a medicamentos e dietas. Considera-se que este protocolo poderia ser adaptado ao seguimento de pacientes portadores de outras doenças raras, incluindo aquelas com envolvimento renal. Com essa proposta, espera-se alcançar o maior número de profissionais envolvidos no seguimento desses pacientes, fortalecendo as bases para a criação de um protocolo nacional, observando-se as particularidades de cada caso.

Multidisciplinary approach for patients with nephropathic cystinosis: model for care in a rare and chronic renal disease.

Care for patients with chronic and rare diseases is complex, especially considering the lack of knowledge about the disease, which makes early and precise diagnosis difficult, as well as the need for specific tests, sometimes of high complexity and cost. Added to these factors are difficulties in obtaining adequate treatment when available, in raising patient and family awareness about the disease and treatment compliance. Nephropathic cystinosis is among these diseases. After more than 20 years as a care center for these patients, the authors propose a follow-up protocol, which has been used with improvement in the quality of care and consists of a multidisciplinary approach, including care provided by a physician, nurse, psychologist, nutritionist and social worker. In this paper, each field objectively exposes how to address points that involve the stages of diagnosis and its communication with the patient and their relatives or guardians, covering the particularities of the disease and the treatment, the impact on the lives of patients and families, the approach to psychological and social issues and guidelines on medications and diets. This protocol could be adapted to the follow-up of patients with other rare diseases, including those with renal involvement. This proposal is expected to reach the largest number of professionals involved in the follow-up of these patients, strengthening the bases for the creation of a national protocol, observing the particularities of each case.

The epidemiological profile of Pediatric Intensive Care Center at Hospital Israelita Albert Einstein.

OBJECTIVE: This study outlined the epidemiological profiles of patients who were admitted to the Pediatric Intensive Care Center at Albert Einstein Israelite Hospital during 2009. METHODS: Data were retrospectively collected for all patients admitted to the PICC during 2009. A total of 433 medical charts were reviewed, and these data were extracted using the DATAMARTS System and analyzed using the statistical software package STATA, version 11.0. RESULTS: There were no statistically significant differences in regards to patient gender, and the predominant age group consisted of patients between the ages of 1 to 4 years. The average occupancy rate was 69.3% per year, and there was a greater number of admissions during April, August, and October. The average length of stay at the hospital ranged from 9.7 to 19.1 days. Respiratory diseases were the main cause for admission to the Pediatric Intensive Care Center, and the mortality rate of the patients admitted was 1.85%. CONCLUSIONS: Respiratory diseases were the most common ailment among patients admitted to the Pediatric Intensive Care Center, and the highest mortality rates were associated with neoplastic diseases.

The epidemiological profile of Pediatric Intensive Care Center at Hospital Israelita Albert Einstein / O perfil epidemiológico do Centro de Terapia Intensiva Pediátrico do Hospital Israelita Albert Einstein

Objective: This study outlined the epidemiological profiles of patients who were admitted to the Pediatric Intensive Care Center at Albert Einstein Israelite Hospital during 2009. Methods: Data were retrospectively collected for all patients admitted to the PICC during 2009. A total of 433 medical charts were reviewed, and these data were extracted using the DATAMARTS System and analyzed using the statistical software package STATA, version 11.0. Results: There were no statistically significant differences in regards to patient gender, and the predominant age group consisted of patients between the ages of 1 to 4 years. The average occupancy rate was 69.3% per year, and there was a greater number of admissions during April, August, and October. The average length of stay at the hospital ranged from 9.7 to 19.1 days. Respiratory diseases were the main cause for admission to the Pediatric Intensive Care Center, and the mortality rate of the patients admitted was 1.85%. Conclusions: Respiratory diseases were the most common ailment among patients admitted to the Pediatric Intensive Care Center, and the highest mortality rates were associated with neoplastic diseases.

Objetivo: Traçar o perfil epidemiológico de pacientes admitidos no Centro de Terapia Intensiva Pediátrico do Hospital Israelita Albert Einstein no período de 1 ano. Métodos: Os dados foram coletados retrospectivamente de todos pacientes admitidos no Centro de Terapia Intensiva Pediátrico durante o ano de 2009. A extração dos dados contidos nos 433 prontuários revisados foi realizada do sistema DATAMARTS e analisada com o programa estatístico STATA, versão 11. Resultados: Não houve diferença significativa para gênero, e a faixa etária predominante foi de 1 a 4 anos. A média de ocupação foi de 69,3% ao ano com maior fluxo nos meses de abril, agosto e outubro. A média de permanência variou de 9,7 a 19,1 dias. As doenças respiratórias foram responsáveis pelo maior número de pacientes no Centro de Terapia Intensiva Pediátrico e a taxa de mortalidade foi de 1,85%. Conclusões: As doenças respiratórias foram as mais frequentes e a maior taxa de mortalidade esteve associada a doenças neoplásicas.