RESUMEN
The recently published 2020 International Society for Peritoneal Dialysis (ISPD) practice recommendations regarding prescription of high-quality goal-directed peritoneal dialysis differ fundamentally from previous guidelines that focused on "adequacy" of dialysis. The new ISPD publication emphasizes the need for a person-centered approach with shared decision making between the individual performing peritoneal dialysis and the clinical care team while taking a broader view of the various issues faced by that individual. Cognizant of the lack of strong evidence for the recommendations made, they are labeled as "practice points" rather than being graded numerically. This commentary presents the views of a work group convened by the National Kidney Foundation's Kidney Disease Outcomes Quality Initiative (KDOQI) to assess these recommendations and assist clinical providers in the United States in interpreting and implementing them. This will require changes to the current clinical paradigm, including greater resource allocation to allow for enhanced services that provide a more holistic and person-centered assessment of the quality of dialysis delivered.
Asunto(s)
Fallo Renal Crónico/terapia , Atención Dirigida al Paciente , Diálisis Peritoneal , Centers for Medicare and Medicaid Services, U.S. , Toma de Decisiones Conjunta , Humanos , Estado Nutricional , Estado de Hidratación del Organismo , Cuidados Paliativos , Planificación de Atención al Paciente , Medición de Resultados Informados por el Paciente , Guías de Práctica Clínica como Asunto , Calidad de la Atención de Salud , Calidad de Vida , Estados UnidosRESUMEN
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase enzyme deficiency. We present clinical, biochemical, and histologic findings in children with classical phenotypic presentation of Fabry disease. METHODS: A retrospective analysis was performed using charts from 14 children with confirmed diagnosis. Clinical parameters were evaluated. Globotriaosylsphingosine -lysoGb3- detection in plasma, podocyturia, and kidney biopsy were carried out in all cases. RESULTS: All patients except one demonstrated at least one symptom of Fabry disease. LysoGb3 levels were above the normal range in all patients. Podocyturia was documented in all patients. Kidney biopsy revealed glomerular, interstitial, vascular, and tubular changes on light microscopy in nearly all patients. Electron microscopy showed podocyte inclusions in all patients. CONCLUSIONS: No difference in symptomatology was discernible between boys and girls. Podocyturia was detectable in children serving as a possible early marker of kidney injury. LysoGb3 was elevated in all cases, emphasizing the importance for diagnosis especially in female patients with normal αGal A activity. A possible association between lysoGb3 and symptom severity and histological involvement in kidney biopsy should be assessed in prospective studies with enough statistical power to determine if lysoGb3 can be used to predict nephropathy in children with Fabry disease.
Asunto(s)
Enfermedad de Fabry/complicaciones , Glucolípidos/sangre , Enfermedades Renales/patología , Podocitos/patología , Esfingolípidos/sangre , Orina/citología , Adolescente , Biopsia , Niño , Preescolar , Enfermedad de Fabry/sangre , Enfermedad de Fabry/orina , Femenino , Humanos , Enfermedades Renales/sangre , Enfermedades Renales/etiología , Enfermedades Renales/orina , Masculino , Microscopía Electrónica , Podocitos/ultraestructura , Estudios Retrospectivos , Factores SexualesRESUMEN
The presence of distal extremity pain in children and adolescents usually triggers the search of rheumatologic diseases without considering non-rheumatologic causes of joint pain. Approaching distal extremity pain with a complete differential diagnosis, including non-rheumatologic entities, may hasten diagnosis, thus decreasing cost and aiding in earlier initiation of appropriate therapy. To present a case of a patient who after years of work up of arthralgia, which was actually attributed to rheumatologic causes, had an inherited metabolic disease. A 32-year-old male presented to the clinic with complaints of distal pain in his four limbs, predominantly in the hands, since he was 8 years. After 6 years of consultation in various pediatric centers, he was diagnosed with growing pains. At the age of 15 years, laboratory investigations began targeting rheumatologic causes of his symptomatology, and after 9 years, the diagnosis of chronic kidney disease of unknown etiology was made. Because of the constellation of signs and symptoms and his family history, an analysis of α-galactosidase A enzyme activity was conducted and Fabry disease was confirmed. Rheumatologists and immunologists may be the first encounter patients with Fabry disease. Thus, if Fabry disease is not considered at the differential diagnosis, an opportunity is missed for early initiation of a therapy.