Dyslipidemias or dyslipoproteinemias are quantitative changes in total cholesterol concentration, respective fractions, or triglycerides in the plasma. Evidence supported that dyslipidemia in childhood is associated with atherosclerosis in adulthood, and early identification and treatment potentially reduce cardiovascular risk in adulthood, which is the principal cause of morbidity and mortality in developed countries. Dyslipidemias can result from primary lipoprotein metabolism changes due to different genetic causes (primary dyslipidemias) or as a consequence of exogenous factors or other pathologies (secondary dyslipidemias). Therefore, the combined dyslipidemias result from the association of important epigenetic and environmental influences with risk factors for cardiovascular disease. The criterion for lipid metabolism screening at young ages is not widely accepted and possibly follows a universal or directed screening strategy. Additionally, little is known about its long-term effects or possible risk-benefit despite the growing tendency to start pharmacological therapy. Therefore, this study aimed to review the available bibliography on dyslipidemia in pediatric age to present a practical and structured approach to dyslipidemia that focuses on screening, risk stratification for atherosclerotic disease, and therapeutic approach.

Introduction: Rituximab (RTX) is a therapeutic option in pediatric difficult-to-treat idiopathic nephrotic syndrome (NS). We aimed to assess the efficacy and safety of RTX use in these patients. Method: A retrospective study of all patients with idiopathic NS treated with RTX was conducted in a pediatric nephrology division of a tertiary hospital. Demographic, anthropometric, clinical and analytical data were collected prior to treatment and at 6, 12, and 24 months. Results: Sixteen patients were included (11 males), with a median (25th–75th percentile, P25–P75) age at diagnosis of 2 (2.0–2.8) years. Fifteen were steroid-sensitive and 1 was steroid-resistant and sensitive to cyclosporine. The median age at administration of RTX was 10 (6.3–14.0) years. Throughout a median follow-up time of 2.5 (1.0–3.0) years, 6 (37.5%) patients achieved partial remission and 7 (43.8%) had no relapses and were not taking any immunosuppressants at the 24-month follow-up visit. Regarding complications, 1 patient presented persistent hypogammaglobulinemia. Compared with the 12-month period before RTX, there was a decrease in the median number of relapses at 6 and 12 months [3 (3.0–4.0) vs 0 (0–0.8) and 0.50 (0–1.0), respectively; p = 0.001] and in the daily steroids dose (mg/kg/day) at 6, 12, and 24 months [0.29 (0.15–0.67)vs [0.10 (0.07–0.13); p = 0.001], [0.12 (0.05–0.22); p = 0.005] and [0.07(0.04–0.18); p = 0.021]], respectively. There was also a reduction in the median BMI z score at 24 months [2.11 (0.45–3.70) vs. 2.93 (2.01–3.98); p = 0.049]. Conclusion: Our results confirm the efficacy and safety of RTX use in pediatric idiopathic NS and highlight its’ potential cardiometabolic benefits.

Background Adrenal insufficiency (AI) is a life-threatening condition caused by an impaired secretion of the adrenal glucocorticoid and mineralocorticoid hormones. It comprises a heterogeneous group of primary, secondary and acquired disorders. Presentation differs according to the child’s age, but it usually presents with nonspecific and insidious symptoms and signs. The main purpose of this study was to describe and compare patients with primary or secondary AI. Methods Retrospective analysis of all patients with adrenal insufficiency followed at the Pediatric Endocrinology Unit in a tertiary care Portuguese hospital over the last 30 years. Data on family history, age at the first manifestation and at etiological diagnosis, and clinical presentation (symptoms, signs and laboratory evaluation) was gathered for all patients. Results Twenty-eight patients with AI were included; 67.9% were male, with a median (25th–75th percentile, P25–P75) age of 1 (0.5–36) month at the first presentation. The principal diagnostic categories were panhypopituitarism (42.9%) and congenital adrenal hyperplasia (25%). The most frequent manifestations (75%) were vomiting and weight loss. They were followed for a median (P25–P75) period of 3.5 (0.6–15.5) years. In respect to neurodevelopmental delay and learning difficulties, they were more common in the secondary AI group. Conclusions Despite medical advances, the diagnosis and management of AI remains a challenge, particularly in the pediatric population, and clinicians must have a high index of suspicion. An early identification of AI can prevent a potential lethal outcome, which may result from severe cardiovascular and hemodynamic instability.

Objectives: Angiotensin-converting enzymes' (ACEs) relationship with blood pressure (BP) during childhood has not been clearly established. We aimed to compare ACE and ACE2 activities between BMI groups in a sample of prepubertal children, and to characterize the association between these enzymes' activities and BP.Methods: Cross-sectional study of 313 children aged 8-9 years old, included in the birth cohort Generation XXI (Portugal). Anthropometric measurements and 24-h ambulatory BP monitoring were performed. ACE and ACE2 activities were quantified by fluorometric methods.Results: Overweight/obese children demonstrated significantly higher ACE and ACE2 activities, when compared to their normal weight counterparts [median (P25ÀP75),

Background and Aims Hepatocyte nuclear factor 1β (HNF1β)-associated disorder is a rare entity that may present with a wide range of clinical phenotypes. Genetic transmission is autosomal dominant, penetrance is incomplete, and expression is variable, which can contribute to different clinical presentations, raising difficulties to reach the diagnosis. The most common findings are renal cysts, responsible for kidney function decline, as well as diabetes mellitus, among other possible organs’ manifestations such as the pancreas, liver, brain and parathyroid gland. The disease arises through monoallelic single nucleotide deleterious variants (SNVs) or whole-gene deletions, in the chromosome 17q12. Method Retrospective analysis of patients with HNF1β-associated disease followed in pediatric nephrology unit, throughout the last 10 years (2013-2022), in our pediatric tertiary center. Data regarding demographic variables, along with family history, relevant clinical information and genetic variants were collected from electronical clinical files. Results A total of 6 patients were followed in our centre, mostly males (n = 5). Regarding age at diagnosis, two patients were diagnosed prenatally, owing to positive familial history and renal cysts, while for the other 4 patients (de novo mutations) the age at diagnosis ranged from one to 13 years-old (yo). Five patients presented with renal cysts, while the other patient presented with unilateral urinary tract dilation. Only one patient presented with diabetes mellitus. Regarding other possible comorbidities, two patients presented with neurodevelopmental disorders and one with hypertension. At presentation, 3 patients had chronic kidney disease stage 3. The mean decrease in glomerular filtration rate was 1.44 ml/min/year (according to Schwartz “bedside” formula). Creatinine levels almost doubled in 3 of the patients since referral (adolescents currently with 1.5-2 mg/dL), while remaining in the normal range in the other patients. Two patients presented with low grade proteinuria during follow-up (max protein/creatinine ratio 0.36 g/g). Values of calcium, transaminases and uric acid were normal in all patients. Familial history of kidney disease, namely cysts or chronic kidney disease, was positive in 3 patients. In terms of genetic transmission, 3 patients had SNVs, while the other 3 presented with larger deletions in chromosome 17q12. Conclusion In conclusion, in these patients, a high degree of suspicion is needed for diagnosis, owing to the rarity of the disease and heterogeneity of its manifestations. A multidisciplinary approach and genetic counseling are determinant for disease management. Families of the affected individuals should be tested, even if asymptomatic, to determine if the HNF1β variant was inherited or occurred de novo. Given the small number of patients, it would be important to widen the sample through a multicentric study.

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Introduction: Bartter’s syndrome comprises a heterogeneous group of inherited salt-losing tubulopathies. There are two forms of clinical presentation: classical and neonatal, the most severe type. Types I and II account for most of the neonatal cases. Types III and V are usually less severe. Characteristically Bartter’s syndrome type IV is a saltlosing nephropathy with mild to severe neonatal symptoms, with a specific feature - sensorineural deafness. Bartter’s syndrome type IV is the least common of all recessive types of the disease. Description: the first reported case of a Portuguese child with neurosensorial deafness, polyuria, polydipsia and failure to thrive, born prematurely due to severe polyhydramnios, with the G47R mutation in the BSND gene that causes Bartter’s syndrome type IV. Discussion: there are few published cases of BS type IV due to this mutation and those reported mostly have moderate clinical manifestations which begin later in life. The poor phenotype-genotype relationship combined with the rarity of this syndrome usually precludes an antenatal diagnosis. In the presence of a severe polyhydramnios case, with no fetal malformation detected, normal karyotype and after maternal disease exclusion, autosomal recessive diseases, including tubulopathies, should always be suspected.

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