Improvement in glycaemic control in paediatric and young adult type 1 diabetes patients during COVID-19 pandemic: role of telemedicine and lifestyle changes.

BACKGROUND AND AIM: COVID-19 pandemic determined a profound impact in everyday life and in routine follow-up of patients with type 1 diabetes (T1D). In this context, telemedicine represented an important tool to guarantee a regular care for these patients. Aim of our work was to assess metabolic control before and after lockdown in the cohort of T1D patients followed-up by our Service, to evaluate the impact of restrictive measures and of disease management through telemedicine. METHODS: This is a retrospective observational study. Subjects were enrolled among children, adolescents and young adults affected by T1D and followed at the Regional Paediatric Diabetology Centre of the University-Hospital of Parma, Italy. We collected data about age, gender, ethnicity, anthropometric measurements, duration of disease, type of blood glucose monitoring used, type of insulin administration, daily insulin requirement and metabolic control, assessed using capillary HbA1c. RESULTS: We enrolled 139 patients, mean age 13.9 years. During lockdown, we reported significantly more contacts through telemedicine between patients and medical team. Global glycol-metabolic control significantly improved, without differences in daily insulin requirement. Patients with a previous poor-controlled diabetes showed a greater improvement. Finally, mean weekly hours of physical activity decreased significantly, without worsening in BMI z-score. CONCLUSIONS: Our results show a global improvement in mean HbA1c, with a stronger result for patients with a previous non satisfactory control. In our setting, despite regulatory rules and physical and logistic limitations related to pandemic, no worsening of metabolic control has been shown for patients with type 1 diabetes.

Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study.

BACKGROUND: Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is caused by mutations in the COL4A5 gene (X-linked ATS) and in two autosomal genes, COL4A4 and COL4A3, responsible of both recessive ATS and, when present in heterozygosity, of a spectrum of phenotypes ranging from isolated hematuria to frank renal disease. METHODS: Retrospective analysis of the clinical and genetic features of 76 patients from 34 unrelated ATS families (11 with mutations in COL4A5, 11 in COL4A3, and 12 in COL4A4) and genotype/phenotype correlation for the COL4A3/COL4A4 heterozygotes (34 patients from 14 families). RESULTS: Eight (24%) of the 34 heterozygous COL4A3 and COL4A4 carriers developed renal failure at a mean age of 57 years, with a significantly lower risk than hemizygous COL4A5 or double heterozygous COL4A3/COL4A4 carriers (p < 0.01), but not different from that of the heterozygous COL4A5 females (p = 0.6). Heterozygous carriers of frameshift/splicing variants in COL4A3/COL4A4 presented a higher risk of developing renal failure than those with missense variants in the glycine domains (p = 0.015). CONCLUSION: The renal functional prognosis of patients with COL4A3/COL4A4-positive ATS recapitulates that of the X-linked ATS forms, with differences between heterozygous vs. double heterozygous patients and between carriers of loss-of-function vs. missense variants.

SARS-CoV-2 infection in children in Parma.

not available.

Renal lithiasis and inflammatory bowel diseases, an update on pediatric population.

BACKGROUND AND AIM OF THE WORK: Historical studies have demonstrated that the prevalence of symptomatic nephrolithiasis is higher in patients with inflammatory bowel disease (IBD), compared to general population. The aim of the review was to analyze literature data in order to identify the main risk conditions described in literature and the proposed treatment. METHODS: A research on the databases PubMed, Medline, Embase and Google Scholar was performed by using the keywords "renal calculi/lithiasis/stones" and "inflammatory bowel diseases". A research on textbooks of reference for Pediatric Nephrology was also performed, with focus on secondary forms of nephrolithiasis. RESULTS: Historical studies have demonstrated that the prevalence of symptomatic nephrolithiasis is higher in patients with inflammatory bowel disease (IBD), compared to general population, typically in patients who underwent extensive small bowel resection or in those with persistent severe small bowel inflammation. In IBD, kidney stones may arise from chronic inflammation, changes in intestinal absorption due to inflammation, surgery or intestinal malabsorption. Kidney stones are more closely associated with Crohn's Disease (CD) than Ulcerative Colitis (UC) in adult patients for multiple reasons: mainly for malabsorption, but in UC intestinal resection may be an additional risk. Nephrolithiasis is often under-diagnosed and might be a rare but noticeable extra-intestinal presentation of pediatric IBD. Secondary enteric hyperoxaluria the main risk factor of UL in IBD, this has been mainly studied in CD, whether in UC has not been completely explained. In the long course of CD recurrent urolithiasis and calcium-oxalate deposition may cause severe chronic interstitial nephritis and, as a consequence, chronic kidney disease. ESRD and systemic oxalosis often develop early, especially in those patients with multiple bowel resections. Even if we consider that many additional factors are present in IBD as hypomagnesuria, acidosis, hypocitraturia, and others, the secondary hyperoxaluria seems to finally have a central role. Some medications as parenteral vitamin D, long-term and high dose steroid treatment, sulfasalazine are reported as additional risk factors. Hydration status may also play an important role in this process. Intestinal surgery is a widely described independent risk factor. Patients with ileostomy post bowel resection may have relative dehydration from liquid stool, which, added to the acidic pH from bicarbonate loss, is responsible for this process. In this acidic pH, the urinary citrate level excretion reduces. The stones most commonly seen in these patients contain uric acid or are mixed. In addition, the risk of calcium containing stones also increases with ileostomy. The treatment of UL in IBD involves correction of the basic gastrointestinal tract inflammation, restricted dietary oxalate intake, and, at times, increased calcium intake. Citrate therapy that increases both urine pH and urinary citrate could also provide an additional therapeutic benefit. Finally, patients with IBD in a pediatric study had less urologic intervention for their calculosis compared with pediatric patients without IBD.

Hemolytic uremic syndrome: differential diagnosis with the onset of inflammatory bowel diseases.

BACKGROUND: Shiga-toxin Escherichia coli productor (STEC) provokes frequently an important intestinal damage that may be considered in differential diagnosis with the onset of Inflammatory Bowel Disease (IBD). The aim of this work is to review in the current literature about Hemolytic Uremic Syndrome (HUS) and IBD symptoms at the onset, comparing the clinical presentation and symptoms, as the timing of diagnosis and of the correct treatment of both these conditions is a fundamental prognostic factor. A focus is made about the association between typical or atypical HUS and IBD and a possible renal involvement in patient with IBD (IgA-nephropathy). METHODS: A systematic review of scientific articles was performed consulting the databases PubMed, Medline, Google Scholar, and consulting most recent textbooks of Pediatric Nephrology. RESULTS: In STEC-associated HUS, that accounts for 90% of cases of HUS in children, the microangiopathic manifestations are usually preceded by gastrointestinal symptoms. Initial presentation may be considered in differential diagnosis with IBD onset. The transverse and ascending colon are the segments most commonly affected, but any area from the esophagus to the perianal area can be involved. The more serious manifestations include severe hemorrhagic colitis, bowel necrosis and perforation, rectal prolapse, peritonitis and intussusception. Severe gastrointestinal involvement may result in life-threatening complications as toxic megacolon and transmural necrosis of the colon with perforation, as in Ulcerative Colitis (UC). Transmural necrosis of the colon may lead to subsequent colonic stricture, as in Crohn Disease (CD). Perianal lesions and strictures are described. In some studies, intestinal biopsies were performed to exclude IBD. Elevation of pancreatic enzymes is common. Liver damage and cholecystitis are other described complications. There is no specific form of therapy for STEC HUS, but appropriate fluid and electrolyte management (better hyperhydration when possible), avoiding antidiarrheal drugs, and possibly avoiding antibiotic therapy, are recommended as the best practice. In atypical HUS (aHUS) gastrointestinal manifestation are rare, but recently a study evidenced that gastrointestinal complications are common in aHUS in presence of factor-H autoantibodies. Some report of patients with IBD and contemporary atypical-HUS were found, both for CD and UC. The authors conclude that deregulation of the alternative complement pathway may manifest in other organs besides the kidney. Finally, searching for STEC-infection, or broadly for Escherichia coli (E. coli) infection, and IBD onset, some reviews suggest a possible role of adherent invasive E. coli (AIEC) on the pathogenesis of IBD. CONCLUSIONS: The current literature shows that gastrointestinal complications of HUS are quite exclusive of STEC-associated HUS, whereas aHUS have usually mild or absent intestinal involvement. Severe presentation as toxic megacolon, perforation, ulcerative colitis, peritonitis is similar to IBD at the onset. Moreover, some types of E. coli (AIEC) have been considered a risk factor for IBD. Recent literature on aHUS shows that intestinal complications are more common than described before, particularly for patients with anti-H factor antibodies. Moreover, we found some report of patient with both aHUS and IBD, who benefit from anti-C5 antibodies injection (Eculizumab).

Eosinophilic esophagitis in pediatric age, state of the art and review of the literature.

Eosinophilic esophagitis (EoE) is a chronic immune-mediated relapsing disease caused by eosinophilic infiltration of the esophageal mucosa which is normally lacking these cells. EoE belongs to the group of the so called Eosinophilic Gastrointestinal Disorders (EGIDs). From a rare and unusual disease, EoE has become an emerging entity and in recent years its incidence and prevalence have increased all over the world, also in children. The pathogenesis is very complex and still not completely clear. Esophageal disfunction symptoms (e.g. dysphagia and food impaction) represent the typical manifestation of EoE and this condition could be difficult to recognize, more in pediatric age than in adults. Moreover, symptoms can often overlap with those of gastro-esophageal reflux disease (GERD), leading to a delayed diagnosis. EoE is often related to atopy and an allergological evaluation is recommended. Untreated EoE could provoke complications such as strictures, esophageal rings, narrowing of the esophagus. Diagnosis is confirmed by the demonstration in biopsy specimens obtained through upper endoscopy of eosinophilic inflammation (>15 for high powered field) of the esophageal mucosa and other histological features. Other tests could be useful not specifically for the diagnosis, but for the characterization of the subtype of EoE. Since EoE incidence and knowledge about physiopathology and natural history have increased, the goal of the review is to provide some helpful tools for the correct management in pediatric age together with an overview about epidemiology, pathogenesis, clinical, diagnosis and treatment of the disease.