RESUMO
In an era of increasing technology and interaction with the patient bedside, we explore the role of relocating the bedside from the hospital to the home using telemedicine. The COVID-19 pandemic pushed telemedicine from small and pilot programs to widespread practice at an unprecedented rate. With the rapid implementation of telemedicine, it is important to consider how to create a telehealth system that provides both good care for patients and families while maintaining an excellent education environment for trainees of all levels. To this end, we developed telemedicine educational milestones to describe novel skills required to provide high quality telemedicine care, and allow trainees and clinical educators a metric by which to assess trainee progress. We also created methods and tools to help trainees learn and families feel comfortable in their new role as virtual collaborators. We envision a time when safety does not set the venue; instead the needs of the patient will dictate whether a virtual or in-person visit is the right choice for a family. We expect that pediatric medical genetics and metabolism groups across the country will continue to set a standard of a hybrid care system to meet the unique needs of each individual patient, using telemedicine technology.
Assuntos
Genética Médica , Visita Domiciliar/estatística & dados numéricos , Pandemias/estatística & dados numéricos , COVID-19/epidemiologia , COVID-19/virologia , Criança , Educação Médica , Genética Médica/métodos , Pessoal de Saúde , Hospitais Pediátricos , Humanos , Assistência ao Paciente , Melhoria de Qualidade , Qualidade da Assistência à Saúde , SARS-CoV-2 , Telemedicina/métodos , Telemedicina/estatística & dados numéricosAssuntos
COVID-19/complicações , Síndrome Metabólica/prevenção & controle , Educação de Pacientes como Assunto , Guias de Prática Clínica como Assunto , Comportamento de Redução do Risco , SARS-CoV-2/isolamento & purificação , COVID-19/transmissão , COVID-19/virologia , Humanos , Síndrome Metabólica/virologiaAssuntos
Carboxiliases/deficiência , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/genética , Adolescente , Carboxiliases/genética , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Malonil Coenzima A/genética , Erros Inatos do Metabolismo/dietoterapia , Ácido Metilmalônico , MutaçãoRESUMO
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease resulting in impaired or absent breakdown of branched-chain amino acids (BCAA) valine, isoleucine, and leucine. Classic MSUD often presents in post-natal periods, at times before newborn screening results, and is treated with a protein restricted diet supplemented with medical food and close follow up to prevent toxic buildup of blood leucine. Acute episodes of decompensation are prevented by early recognition and treatment. Acute episodes of metabolic decompensation in patients with MSUD are medical emergencies that require immediate treatments as cerebral edema may lead to brain-stem compression resulting in death. As the early outcomes improve for MSUD patients, the long-term sequelae of chronic hyperleucemia are being elucidated and include cognitive impairment, mental health disorders, and movement disorders. In this report we present an adult patient with MSUD with attention deficit, hyperactivity type (ADHD) and depression due to prolonged exposure to elevated leucine managed with community support services who presented to the emergency department with new onset of acute hallucinations. He was held in the emergency department awaiting involuntary commitment to a psychiatric facility and underwent psychiatric treatments for suspected new onset hallucinations without improvement. Upon notification of metabolic specialists and initiation of appropriate therapy of MSUD, his leucine level normalized rapidly with resolution of his acute psychosis. This case describes the acute presentation of psychosis in the setting of long-term toxicity of leucine. This case also highlights the importance of transition of care, education and planning in patients with inborn errors of metabolism.
RESUMO
OBJECTIVE: To present a case series that illustrates real-world use of pegvaliase based on the initial experiences of US healthcare providers. METHODS: Sixteen healthcare providers from 14 centers across the US with substantial clinical experience in treating patients with phenylketonuria (PKU) with pegvaliase in the two-plus years since FDA approval (May 2018) provided cases that exemplified important lessons from their initial experiences treating patients with pegvaliase. Key lessons from each case and takeaway points were discussed in both live and virtual meetings. RESULTS: Fifteen cases of adults with PKU (eight males, seven females), representing a spectrum of age (18 to 53 years), previous PKU care, comorbidities, and socioeconomic situations were reviewed and discussed. Full extended case reports are included in the Supplement. The cases showed that treating patients with a daily injectable can be challenging due to a patient's financial problems, treatment challenges, and neuropsychological and psychiatric comorbidities, which can be identified before starting pegvaliase, but do not prohibit successful treatment. The authors agreed that patient education on adverse events (AEs), time to efficacy, dietary changes, and food preparation is an ongoing process that should start prior to initiating pegvaliase treatment. Treatment goals and planned dietary changes once efficacy is reached should be defined prior to treatment initiation and re-evaluated throughout the course of therapy. Each patient's titration schedule and dietary adjustments are unique, depending on occurrence of AEs and individual goals of treatment. Despite the AE profile of pegvaliase, all but two patients remained motivated to continue treatment and achieved efficacy (except one patient in whom titration was still ongoing). AEs occurring early in the treatment pathway may require prolongation of the titration phase and/or concomitant medication use, but do not seem indicative of future tolerability or eventual efficacy. Close follow-up of patients during titration and maintenance to help with dietary changes is important. CONCLUSION: This case series provides real-world experience on the use of pegvaliase. Until data from registries and independent research become available, the data presented herein can support appropriate management of patients receiving pegvaliase in clinical practice.
RESUMO
Classic galactosemia results from a deficiency in the galactose-1-phosphate uridylyltransferase (GALT) enzyme, which is essential for galactose metabolism. Treatment focuses on lactose restriction and is achieved with a soy-based diet. Previously, renal calculi have not been documented in galactosemia patients. We present a patient with galactosemia nutritionally dependent on soy-based formula via G-tube, who developed renal calculi. Analysis of urinary stone risk factors revealed elevated urine oxalate levels and stone analysis confirmed calcium oxalate composition. Initiation of lactose- and soy-free elemental formula returned urine oxalate level to normal. Given the presence of a metabolic pathway for the conversion of galactose to oxalate, and the high content of oxalate in soy-based formula, there is the potential for elevated urine oxalate and a resulting risk of urinary calculi formation in patients with classic galactosemia. This potential can be effectively managed with a lactose and soy-free elemental diet. This report describes the clinical course and novel findings of calcium oxalate urinary calculi in a classic galactosemia patient dependent upon soy-based formula, with a discussion regarding the multiple factors leading to increased stone formation in this patient.