ABSTRACT
INTRODUCTION: Sickle cell anemia (SCA) is a hemoglobinopathy presenting severe endothelial damage associated with increased prevalence of hypertension (HTN). Few studies have used ambulatory blood pressure monitoring (ABPM) in pediatric patients with SCA. The aim of this study was to characterize the ABPM profile in children with SCA. METHODS: A retrospective cross-sectional study was conducted on all subjects <18 years of age with SCA who presented at a medical reference center in the city of Cartagena, Colombia. Anthropometric, clinical laboratory, treatment, and ABPM parameters, including ambulatory arterial stiffness index (AASI) were registered. RESULTS: The study included 79 patients, of these, 23 (29%) children had normal BP, 49 (62%) had abnormal BP and 7 (9%) had HTN. Mean age was 10.5â ±â 3.6 years and 44 (56%) cases were male. Forty-eight (60%) patients had pre-HTN. Masked HTN was present in 6 (8%) patients. One (1%) had ambulatory HTN, and another one (1%) had white coat HTN. The HTA group exhibited significantly higher systolic BP and diastolic BP compared to the other groups in 24-hour BP readings, daytime BP, and night-time BP ABPM parameters ( P â <â 0.05), except for daytime DBP ( P â =â 0.08). Mean AASI was 0.4â ±â 0.2. The HTN group had the highest AASI value compared to the other groups ( P = 0.006). CONCLUSION: Significant alterations in ABPM parameters are frequently observed in pediatric patients with SCA. The incorporation of ABPM, along with the assessment of AASI, is recommended for a comprehensive evaluation of cardiovascular and renal risk in SCA patients.
Subject(s)
Anemia, Sickle Cell , Hypertension , Humans , Male , Child , Adolescent , Female , Blood Pressure Monitoring, Ambulatory , Blood Pressure , Retrospective Studies , Cross-Sectional Studies , Anemia, Sickle Cell/complicationsABSTRACT
INTRODUCTION: Atypical hemolytic uremic syndrome (aHUS) is a rare and genetically mediated systemic disease most often caused by uncontrolled and chronic complement activation that leads to systemic thrombotic microangiopathy, renal and extra-renal damage. MATERIALS AND METHODS: This is descriptive, retrospective and multicenter study, which reports demographic, clinical, laboratory, and genetic characteristics, as well as their treatment response and outcome of 20 aHUS patients diagnosed between 2014 and 2018. RESULTS: Most patients were female adults (75%) and 30% were associated to pregnancy/postpartum, 15% to autoimmune disease, and 65% to infections. Gastrointestinal involvement (75%) was the most frequent extra-renal organ damage. Antenatal mortality and mortality rate were 5% and 10%, respectively. 25% of the patients progressed to end-stage renal disease. In 4/8 of patients treated within 1 week of presentation, eculizumab treatment restored multi-organ function after 4 weeks of treatment. CFH (37%) and CFI (25%) mutations were the most frequent. CONCLUSION: This is the first series of aHUS cases of Colombian Caribbean region which reports the clinical and epidemiological characteristics of this condition in this region.
Subject(s)
Atypical Hemolytic Uremic Syndrome , Thrombotic Microangiopathies , Adult , Atypical Hemolytic Uremic Syndrome/epidemiology , Atypical Hemolytic Uremic Syndrome/genetics , Atypical Hemolytic Uremic Syndrome/therapy , Colombia/epidemiology , Complement Activation , Female , Humans , Male , Pregnancy , Retrospective Studies , Thrombotic Microangiopathies/complications , Thrombotic Microangiopathies/diagnosis , Thrombotic Microangiopathies/drug therapyABSTRACT
El síndrome nefrótico (SN) constituye la glomerulopatía más frecuente en pediatría. El pilar del tratamiento con-tinúa siendo la terapia con corticoides. Dependiendo de la respuesta se clasifica en síndrome nefrótico corti-coresistente (SNCR) y corticosensible. La mayoría de los pacientes con SNCR tienen glomeruloesclerosis focal y segmentaria, asociada con 50% de riesgo de enfermedad renal terminal, por lo que se recomienda biopsia renal. Es importante realizar pruebas genéticas, ya que ciertas mutaciones resultan en corticorresistencia, siendo la mutación del gen NPHS2 (podocina) la más relacionada. Este artículo es una revisión de la literatura mundial y nacional acerca del SNCR en pediatría, enfatizando en nuevos enfoques de diagnóstico y tratamiento
Nephrotic syndrome (NS) is the most frequent glomerulopathy in pediatrics. The mainstay of treatment continues to be corticosteroid therapy. Depending on the response, it is classified as corticosteroid nephrotic syndrome (SNCR) and corticosensitive syndrome. Most patients with SNCR have focal and segmental glomerulosclerosis, associated with a 50% risk of end-stage renal disease, and renal biopsy is recommended. It is important to perform genetic tests, since certain mutations result in corticoresistance, with the mutation of NPHS2 gene (podocin) being the most related. This article is a review of the global and national literature on SNCR in pediatrics, emphasizing new approaches to diagnosis and treatment.
