Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Síndrome Hemolítico-Urêmica Atípica/tratamento farmacológico , Anticorpos Monoclonais Humanizados/administração & dosagem , Anticorpos Monoclonais Humanizados/economia , Síndrome Hemolítico-Urêmica Atípica/economia , Síndrome Hemolítico-Urêmica Atípica/terapia , Esquema de Medicação , Custos de Medicamentos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Diálise Renal/estatística & dados numéricos , Estudos RetrospectivosRESUMO
Kearns-Sayre syndrome (KSS) is a mitochondrial encephalopathic disorder. Because mitochondria are ubiquitous organelles that are present in almost every human tissue, their dysfunction can affect nearly any organ system and give rise to a wide range of clinical characteristics. 1: As is the case with most diseases associated with mitochondrial DNA (mtDNA) mutations, the clinical features of KSS were defined before modern molecular genetic classifications emerged. 2: The exact prevalence of KSS is unknown; however, estimates place it at about 1:100,000 people. Although it is a rather rare syndrome, the ability to recognize or consider KSS as part of a differential diagnosis is crucial. Reported here are two case reports: 1) a 30-year-old Caucasian female patient who presented for evaluation to her primary care physician's office and, and 2) A 57-year-old Caucasian female patient long-term C care resident. Guidelines are listed for management as a primary care physician as well as signs and symptoms that are often associated with Kearns-Sayre syndrome and other mitochondrial disorders.