Multisystemic Inflammatory Syndrome and Thrombotic Microangiopathy as Complications of COVID-19 in a Child: A Case Report.

Clinical presentations of the novel coronavirus (SARS-CoV-2) infection are quite varied, ranging from asymptomatic conditions to potentially fatal disease. The kidney is one of the affected targets of coronavirus disease (COVID-19) complications, and renal dysfunction is a significant prognostic factor for mortality. This report describes a series of clinical complications in a previously healthy child who developed nephritic syndrome with a concomitant SARS-CoV-2 infection. These complications include acute kidney injury that progressed to chronicity, multisystemic inflammatory syndrome, Kawasaki-like syndrome, and thrombotic microangiopathy.

Development of a risk score for earlier diagnosis of chronic kidney disease in children.

OBJECTIVE: To develop a clinical score for the early identification of chronic kidney disease (CKD) in children and adolescents. The early diagnosis of CKD in childhood allows the adoption of measures to slow the progression of the disease, thereby reducing morbidity and mortality. Nevertheless, the diagnosis is often made too late for proper patient management. STUDY DESIGN: We preformed a case-control study of a multicenter Brazilian sample of 752 pediatric patients; the study cases (n = 376) were CKD patients with a median estimated GFR of 37 (IQR = 22 to 57) ml/min/1.73 m2. The control group (n = 376) comprised age-, gender- and center-matched children who were followed for nonrenal diseases. Potential risk factors were investigated through a standard questionnaire that included symptoms, medical history, and a clinical examination. Two multivariable models (A and B) were fitted to assess predictors of the diagnosis of CKD. RESULTS: In model A, 9 variables were associated with CKD diagnosis: antenatal ultrasound with urinary malformation, recurrent urinary tract infection, polyuria, abnormal urine stream, nocturia, growth curve flattening, history of hypertension, foamy urine and edema (c-statistic = 0.938). Model B had the same variables as model A, except for the addition of the history of admission during the neonatal period and the exclusion of antenatal ultrasound variables (c-statistic = 0.927). CONCLUSIONS: The present scores may serve as a warning sign for CKD diagnosis in children among professionals working in the primary care setting where the symptoms associated with a risk of CKD may be overlooked.

Gaucher disease in a family from Maranhão.

BACKGROUND: Gaucher disease is an inborn, autosomal recessive error of the metabolism which belongs to the group of lysosomal storage disorders. OBJECTIVE: This work reports on the treatment of Gaucher disease in several members of the same family from the countryside of Maranhão. METHODS: This was an observational, retrospective and prospective, descriptive case study about the efficacy of enzyme replacement therapy. RESULTS: The results showed that women were more affected (80% of patients) by the disease, age at diagnosis ranged from 24 to 33 years, the predominant ethnicity was mulatto (80%) and all cases were classified as type 1. The diagnosis of these patients was performed by measuring the levels of glucocerebrosidase and chitotriosidase enzymes and confirmed by genotyping. All patients suffering from Gaucher disease had low glucocerebrosidase levels. Before replacement therapy, hepatosplenomegaly was the most common clinical manifestation (100%) and osteopenia was seen in 80% of the cases. Regarding hematological manifestations, anemia and leukopenia were found in 40% of patients at diagnosis; however the hemoglobin and leukocyte levels were normalized after four years of therapy. Thrombocytopenia, observed in 20% of cases, was normalized after the second year of treatment. CONCLUSION: In these cases, despite gaps in the treatment as the family resides in the rural region of the state, the patients with Gaucher disease showed satisfactory therapeutic response over time.

Gaucher disease in a family from Maranhão

Background: Gaucher disease is an inborn, autosomal recessive error of the metabolism which belongs to the group of lysosomal storage disorders. Objective: This work reports on the treatment of Gaucher disease in several members of the same family from the countryside of Maranhão. Methods: This was an observational, retrospective and prospective, descriptive case study about the efficacy of enzyme replacement therapy. Results: The results showed that women were more affected (80% of patients) by the disease, age at diagnosis ranged from 24 to 33 years, the predominant ethnicity was mulatto (80%) and all cases were classified as type 1. The diagnosis of these patients was performed by measuring the levels of glucocerebrosidase and chitotriosidase enzymes and confirmed by genotyping. All patients suffering from Gaucher disease had low glucocerebrosidase levels. Before replacement therapy, hepatosplenomegaly was the most common clinical manifestation (100%) and osteopenia was seen in 80% of the cases. Regarding hematological manifestations, anemia and leukopenia were found in 40% of patients at diagnosis; however the hemoglobin and leukocyte levels were normalized after four years of therapy. Thrombocytopenia, observed in 20% of cases, was normalized after the second year of treatment. Conclusion: In these cases, despite gaps in the treatment as the family resides in the rural region of the state, the patients with Gaucher disease showed satisfactory therapeutic response over time...