Introduction: Our aim was to characterize new-onset type 1 diabetes mellitus (T1D) cases in a pediatric population referred to a large pediatric diabetic center throughout the first year of the COVID-19 pandemic, comparing it to previous years. Methods: Retrospective study including patients under 18 years with new-onset T1D, from March 12th 2020 to March 11(th) 2021. A control group was defined using data on patients under 18 years with new-onset T1D referred to the same hospital in the 3 previous years (from March 2017 to March 2020). Data was analyzed using SPSS. A p value of 0.05 was used as threshold of significance. Results: Between March 12(th) 2020 and March 12(th) 2021, 44 patients were diagnosed with new-onset T1D. The control group included 96 patients, resulting in an incidence of 32 cases/year (37.5% rise). January 2021 was the month with the higher number of diagnosis, corresponding to the peak of novel SARS-CoV-2 infections. During the pandemic, new-onset T1D cases in children under 2 years-old doubled, when comparing to mean incidence in previous years. Median delay to diagnosis was not significantly different from previous years. Diabetic ketoacidosis (DKA) at presentation was present in 50% of cases that were diagnosed after lockdown, increasing substantially from previous years (38.5%). DKA's severity was also significantly higher (40.9%, p=0.04), as were Intensive Care Unit admission (13.6%, p=0.04). Conclusion: Despite the existance of molecular pathways that could lead to islet cell injury, the role of the new coronavirus in the pathogenesis of DKA and T1D onset is still unclear. Disease severity could also be related to a higher proportion of younger children.

Primary inherited epidermal growth factor receptor defects have recently been described in severe inflammatory skin disease and diarrhoea case reports. We describe two case reports of female preterm newborns of Roma consanguineous parents who presented both with alopecia and erythroderma/ichthyosis, in addition to nephromegaly at birth in case 1. Later, they both developed hypomagnesaemia and other severe hydroelectrolyte disturbances, recurrent life-threatening sepsis and failure to thrive. Exome sequencing identified a homozygous mutation in the epidermal growth factor receptor, rarely described. Despite optimization of medical supportive care, the prognosis was poor and both patients died before the first year of life. There are few similar cases of epidermal growth factor receptor homozygous mutation reported so far. Our manuscript describes the genetics, clinical presentation, and complex treatment of our two patients, aiming to contribute to new advances in the management of this condition.

Background: The rate of diabetic ketoacidosis in new-onset type 1 diabetes mellitus depends on multiple factors and is very heterogeneous between countries. An inverse relationship between the incidences of T1D and DKA seems to exist. Moreover, DKA is reported to be more common in children under 5 years old. Current data on Portuguese pediatric DKA incidence in new-onset T1D is limited. We aimed to determine the rate of DKA incidence in this population, as well as risk and protective factors.Methods: Review of data from children aged 18 years or younger with new onset T1D, referred to a pediatric endocrinology unit between January 1st, 2013 and December 31th, 2020 (8 years).Results: 276 patients were included with a median age of 9.6 years-old (0.5-17.9 years): 15,6% aged between 2 and 5 years-old and 3,6% under two years. A mean incidence of 34,5 new cases per year was observed, with an upward trend. One hundred and five (38%) presented with DKA, which was considered severe in 9,4%; 50 patients (18,1%) presented only with hyperglycemia. Non-DKA at presentation was associated with family history of T1D (p=0.016). DKA at presentation was more frequent in the age group under 2 years old (p=0.005).Conclusions: DKA’s frequency at new onset T1D is still high, although only a small proportion of cases was considered severe. A family history of T1D correlated with a non-DKA presentation, while an age under 2 years presented as a risk factor for DKA.

Cow's protein milk allergy (CPMA) is the most common food allergy in infants (2%–3% of the infant population), typically occurring in the first 6 months of life.[1 2][1] Family history of atopy, prematurity or previous use of antibiotics are possible risk factors for CPMA.[3][2] Common non-

Hypereosinophilic syndromes are rare in children. Sporadic, mild-severity FIP1L1-platelet-derived growth factor receptor α (PDGFRα) rearrangement cases have been reported, mainly in boys. We present the case of a 5-year-old girl referred from her African country of birth, due to severe constitutional symptoms, multifocal bone pain, headache, gastrointestinal complaints, cardiomyopathy and unexplained hypereosinophilia. She presented multiple end-organ diseases and striking bone involvement. Although she had a positive serology for Strongyloides stercoralis , extensive evaluation detected a FIP1L1-PDGFRA fusion gene. Systemic corticosteroids and low-dose imatinib were started and the child became asymptomatic. After 9 months of treatment, FIP1L1-PDGFRA was no longer detected.

Introduction and Aims:Nephrocalcinosis is characterized by the deposition of calcium in the kidney parenchyma and tubules.The renal prognosis depends on the underlying cause, emphasizing the importance of its identification.We aim to review the data of children with nephrocalcinosis concerning etiology, clinical manifestations, growth and renal function at presentation and outcomes.Methods: Retrospective study of the records of children (<18 years) with nephrocalcinosis followed by a pediatric nephrology unit of level III hospital, between 2008 -17.Clinical features, etiology, treatment and outcomes were evaluated.Results: We identified 35 cases: 24 isolated (69%) and 11 with nephrolithiasis (31%).The group was mostly constituted of girls (54%).Median age at presentation was 6 years (7 months -17 years old); 40% of patients were under 2 years of age, 31% between 3 and 9 years and 29% older than 10 years.Mean follow -up was 4 years (1-9).The most common clinical manifestation was failure to thrive in the first year of life (34%) and flank or abdominal pain (20%); in 23% it was an incidental finding.Eleven percent of patients had a systemic syndromic disease.Renal function at diagnosis was normal in all children.The most frequent causes were metabolic abnormalities (23%), hereditary tubulopathies (23%), prematurity (20%) and pharmacologic (14%).Eleven percent were considered idiopathic.In a logistic regression analysis, sex, age of presentation and familiar history of nephrocalcinosis showed no correlation with nephrocalcinosis, nephrocalcinosis and nephrolithiasis or hereditary/metabolic etiologies.Discussion: Despite the small sample, in this study, the hereditary and/or metabolic disorders were the main cause of nephrocalcinosis.Associated symptoms and comorbidities, such as prematurity, growth retardation, intestinal malabsorption, or bone demineralization, should be evaluated for diagnostic purposes.No patient developed chronic kidney disease.

Introduction and Aims: Nephrolithiasis incidence in children has increased considerably. It is associated with substantial morbidity, recurrence and increased adulthood cardiovascular risk and chronic kidney disease. A thorough investigation is essential, as rare forms of urolithiasis have increased risk of renal failure. We aim to determine the epidemiology and outcomes of a pediatric population with nephrolithiasis presented in a nephrology unit of a tertiary centre. Methods: Retrospective study of the records of all children (<18 years) with nephrolithiasis diagnosis between 2008 -17. Clinical features, etiology, recurrence, treatment, and outcomes were evaluated and compared throughout the study period through two equal periods (2008 -12 versus 2013 -17). Results: We identified 80 cases: isolated nephrolithiasis (86%) and associated with nephrocalcinosis (14%). Mean follow -up was 36 months (14–120). Median age at presentation was 8.6 years [3 months – 17 years]: 21% < 2 years -old and 46% ≥ 10 years. The annual ratio of referrals for nephrolithiasis increased on average 1.2% per year [0.3 -11.8%]. Multiple etiological factors were present in 34%. A metabolic abnormality was identified in 54%: hypocitraturia (34%), hypercalcuria (24%), hyperoxaluria (15%), hyperuricosuria (15%) and cystinuria (1%), without age predominance (p=0.2). Urinary tract infection (24%) was the next most significant etiology and was more frequent below 2 years of age (p=0.001) and associated with struvite calculi (p=0.033). Median age at diagnosis was significantly lower in the study’s first half (5 vs 10 years; p=0.019) and an infectious etiology was more frequent (p=0.043). In a logistic -regression analysis, a family history of nephrolithiasis was associated with a metabolic cause (p<0.01). Sixty -three percent became stone free and 24% had recurrence. Discussion: Nephrolithiasis new referrals gradually increased throughout the study period. The most common etiology was metabolic, which is usually responsible for nephrolithiasis appearance and its recurrence, emphasizing the need for a complete evaluation.

An increased risk of severe and fatal Israeli spotted fever (ISF) has been observed in adults, mostly associated with ISF strain. Here, we report a case of severe ISF with multiorgan failure in a Portuguese child.