ABSTRACT
PIK3CA-related overgrowth spectrum (PROS) encompasses different clinical entities caused by somatic activating mutations in PIK3CA. Among PROS, CLOVES syndrome represents a severe phenotype with poor survival rate. We present the case of a 4-month-old girl with CLOVES syndrome successfully treated with alpelisib, a PIKC3A inhibitor.
Subject(s)
Class I Phosphatidylinositol 3-Kinases , Thiazoles , Humans , Class I Phosphatidylinositol 3-Kinases/genetics , Female , Infant , Thiazoles/therapeutic use , Vascular Malformations/genetics , Vascular Malformations/drug therapy , Nephrocalcinosis/genetics , Mutation , Lipoma , Musculoskeletal Abnormalities , NevusABSTRACT
BACKGROUND: Living donor kidney transplantation is the best type of renal replacement therapy for patients with end-stage renal disease. Living kidney donors (LKDs) undergo an extensive evaluation before donating, and many potential LKDs are declined. This study aimed to define the reasons for the decline in LKD candidates referred to our center. METHODS: We retrospectively analyzed clinical data of all potential LKDs evaluated between January 2001 and December 2021 at our institution,Western National Medical Center, Pediatric Hospital. Data were obtained by review of an electronic database. RESULTS: A total of 1332 potential LKDs were evaluated, 796 (59.7%) successfully donated; 20 (1.5%) had a complete evaluation, were accepted for donation, and were on the waiting list for intervention; 56 (4.2%) continued in the evaluation process; 200 (15%) were discharged from the program due to administrative aspects, death (donor or receptor), or cadaveric renal transplantation in order of frequency; 56 (4.2%) withdraw by personal choice; and 204 (15.3%) were rejected for donation. Donor-related reasons included medical contraindications (n = 134, 65.7%), anatomic contraindications (n = 38, 18.6%), immunologic barriers (n = 18, 8.8%), and psychological reasons (n = 11, 5.4%). CONCLUSIONS: Despite the large number of potential LKDs, a significant proportion did not proceed for donation for different reasons; in our description, it represents 40.3%. The largest proportion is because of donor-related causes, and most of the reasons result from the candidate's unnoticed chronic diseases.
Subject(s)
Kidney Failure, Chronic , Kidney Transplantation , Child , Humans , Living Donors/psychology , Retrospective Studies , Kidney , Kidney Failure, Chronic/surgeryABSTRACT
BACKGROUND: Obesity increases the severity of coronavirus disease 2019 illness in adults. The role of obesity in short-term complications and post-acute sequelae in children is not well defined. OBJECTIVE: To evaluate the relationship between obesity and short-term complications and post-acute sequelae of SARS-CoV-2 infection in hospitalized paediatric patients. METHODS: An observational study was conducted in three tertiary hospitals, including paediatric hospitalized patients with a confirmatory SARS-CoV-2 RT-PCR from March 2020 to December 2021. Obesity was defined according to WHO 2006 (0-2 years) and CDC 2000 (2-20 years) growth references. Short-term outcomes were intensive care unit admission, ventilatory support, superinfections, acute kidney injury, and mortality. Neurological, respiratory, and cardiological symptoms and/or delayed or long-term complications beyond 4 weeks from the onset of symptoms were considered as post-acute sequalae. Adjusted linear, logistic regression and generalized estimating equations models were performed. RESULTS: A total of 216 individuals were included, and 67 (31.02%) of them had obesity. Obesity was associated with intensive care unit admission (aOR = 5.63, CI95% 2.90-10.94), oxygen requirement (aOR = 2.77, CI95% 1.36-5.63), non-invasive ventilatory support (aOR = 6.81, CI95% 2.11-22.04), overall superinfections (aOR = 3.02 CI95% 1.45-6.31), and suspected bacterial pneumonia (aOR = 3.00 CI95% 1.44-6.23). For post-acute sequalae, obesity was associated with dyspnea (aOR = 9.91 CI95% 1.92-51.10) and muscle weakness (aOR = 20.04 CI95% 2.50-160.65). CONCLUSIONS: In paediatric hospitalized patients with COVID-19, severe short-term outcomes and post-acute sequelae are associated with obesity. Recognizing obesity as a key comorbidity is essential to develop targeted strategies for prevention of COVID-19 complications in children.