Congenital anomalies of the kidney and urinary tract: antenatal diagnosis, management and counselling of families

Congenital anomalies of the kidney and urinary tract are collectively one of the most commonly diagnosed antenatal conditions. Clinicians have several tools available to diagnose anomalies, including imaging, biomarkers, family history and genetic studies. In certain cases, antenatal interventions such as vesico-amniotic shunting may be considered to improve postnatal outcomes. Congenital kidney anomalies detected antenatally can vary in clinical significance from almost no impact postnatally to significant morbidity and perinatal mortality. Prognosis broadly depends on kidney size, structure and amount of amniotic fluid, alongside genetics and family history, and progression on subsequent scans. It is important to counsel parents appropriately using a parent-focused and personalised approach. The use of a multidisciplinary team should always be considered

Financijske obiteljske prilike, bračni status roditelja i samoozljeđivanje kod adolescenata u Hrvatskoj

Th e aim of this study was to determine the level of self-harm behaviors among adolescents in the general population (students of secondary schools in Zagreb, Croatia), as well as to determine if the level of self-harm behaviors diff ered according to fi nancial circumstances of the family and marital status of the parents. Th e study was conducted in 701 adolescents (male and female, age range 14 to 19 years). A specially designed questionnaire that included family and demographic data was used to determine the family fi nancial circumstances. Th e Scale of Auto-Destructiveness measuring instrument was used to assess the level self-harm. Study results revealed that 87.3% of adolescents indicated average levels of self-harm, whereas above-average and high above-average selfharm was indicated in 12.7% of the adolescents. Results also showed that single-parent families signifi cantly diff erentiated the level of self-harm among adolescents of both genders, whereas fi nancial deprivation (perception of fi nancial stress) partially diff erentiated these levels. Practical implications of this study emphasize the importance of social support to parents of adolescents grown up in singleparent and/or fi nancially challenged families.Cilj ovoga istraživanja bio je utvrditi razinu samoozljeđivanja kod adolescenata u općoj populaciji (učenici srednjih škola u Zagrebu, Hrvatska), kao i utvrditi razlikuje li se razina samoozljeđivanja prema obiteljskim fi nancijskim prilikama i bračnom statusu roditelja. Istraživanje je provedeno na 701 adolescentu (muški i ženski, u rasponu dobi od 14 do 19 godina). Za određivanje fi nancijskih obiteljskih prilika primijenjen je posebno dizajniran upitnik koji uključuje obiteljske i demografske podatke. Za procjenu razine autoagresivnosti rabio se mjerni instrument Ljestvica auto-destruktivnosti. Rezultati su poka zali da 87,3% adolescenata pokazuje prosječnu razinu autoagresivnosti, dok je iznadprosječna i vrlo visoko iznadprosječna autoagresivnost prisutna u 12,7% adolescenata. Rezultati pokazuju da adolescenti u jednoroditeljskim obiteljima iskazuju značajno višu razinu samoozljeđivanja i to među adolescentima oba spola, dok lošije obiteljske fi nancijske prilike (percepcija fi nancijskog stresa) razlikuju istu razinu samoozljeđivanja. Praktična primjena ovoga istraživanja naglašava važnost socijalne potpore roditeljima adolescenata koji odrastaju u jednoroditeljskim i/ili obiteljima lošijih fi nancijskih prilika

Exact Shannon entropies for the multidimensional harmonic states

In this work we determine and discuss the entropic uncertainty measures of Shannon type for all the discrete stationary states of the multidimensional harmonic systems directly in terms of the states' hyperquantum numbers, the dimensionality and the oscillator strength. We have found that these entropies have a monotonically increasing behavior when both the dimensionality and the population of the states are increasingComment: Accepted and Published in Physica

Burosumab in management of X-linked hypophosphataemia: a retrospective cohort study of growth and serum phosphate levels

BACKGROUND: Burosumab, an antifibroblast growth factor 23 monoclonal antibody, improves rickets severity, symptoms and growth in children with X-linked hypophosphataemia (XLH) followed up to 64 weeks in clinical trials. International dosing guidance recommends targeting normal serum phosphate concentration; however, some children may not achieve this despite maximal dosing. This study compares clinical outcomes in children with XLH on long-term burosumab treatment who achieved normal phosphate versus those who did not. METHODS: Single-centre retrospective review of a large paediatric cohort with XLH treated with burosumab. We evaluated growth and biochemical markers of bone health in those who did compared with those who did not achieve normal plasma phosphate concentration. RESULTS: Fifty-five children with XLH with median age of 11.7 (IQR 6.8-15.5) years were included. 27 (49%) had low plasma phosphate concentration, and 27 (49%) had normal phosphate after a median burosumab treatment duration of 3.3 (IQR 2.6-3.7) years. 1 (2%) did not have a recent phosphate level recorded. No difference in growth was found between normal and abnormal phosphate groups (p=0.9). CONCLUSIONS: Young children with XLH experience sustained growth on long-term burosumab treatment, although without normal plasma phosphate concentration in many. Consideration should be made to changing burosumab dosing recommendations to target normalisation of alkaline phosphatase, as opposed to plasma phosphate concentration

Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD).

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is thought to affect about 1 in 1000 people in the UK. ADPKD causes a progressive decline in kidney function, with kidney failure tending to occur in middle age. Children and young people with ADPKD may not have any symptoms. However they may have high blood pressure, which may accelerate progression to later stages of chronic kidney disease.There is uncertainty and variation in how health professionals manage children and young people with confirmed or a family history of ADPKD, because of a lack of evidence. For example, health professionals may be unsure about when to test children's blood pressure and how often to monitor it in the hospital clinic or at the GP. They may have different approaches in recommending scanning or genetic testing for ADPKD in childhood, with some recommending waiting until the young person is mature enough to make this decision his or herself.This guideline is intended to help families affected by ADPKD by making sure that: health professionals with specialist knowledge in ADPKD offer you information on inheritance and potential benefits and harms of testing for ADPKD. the decision to test and the method of testing for ADPKD in children and young people is shared between you or your family and the health professionals blood pressure assessment is undertaken regularly in children and young people at risk of developing ADPKD

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

These recommendations were systematically developed on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an international group of experts in autosomal dominant polycystic kidney disease (ADPKD) from paediatric and adult nephrology, human genetics, paediatric radiology and ethics specialties together with patient representatives. They have been endorsed by the International Pediatric Nephrology Association (IPNA) and the European Society of Paediatric Nephrology (ESPN). For asymptomatic minors at risk of ADPKD, ongoing surveillance (repeated screening for treatable disease manifestations without diagnostic testing) or immediate diagnostic screening are equally valid clinical approaches. Ultrasonography is the current radiological method of choice for screening. Sonographic detection of one or more cysts in an at-risk child is highly suggestive of ADPKD, but a negative scan cannot rule out ADPKD in childhood. Genetic testing is recommended for infants with very-early-onset symptomatic disease and for children with a negative family history and progressive disease. Children with a positive family history and either confirmed or unknown disease status should be monitored for hypertension (preferably by ambulatory blood pressure monitoring) and albuminuria. Currently, vasopressin antagonists should not be offered routinely but off-label use can be considered in selected children. No consensus was reached on the use of statins, but mTOR inhibitors and somatostatin analogues are not recommended. Children with ADPKD should be strongly encouraged to achieve the low dietary salt intake that is recommended for all children

COVID-19 in children treated with immunosuppressive medication for kidney diseases

BACKGROUND: Children are recognised as at lower risk of severe COVID-19 compared with adults, but the impact of immunosuppression is yet to be determined. This study aims to describe the clinical course of COVID-19 in children with kidney disease taking immunosuppressive medication and to assess disease severity. METHODS: Cross-sectional study hosted by the European Rare Kidney Disease Reference Network and supported by the European, Asian and International paediatric nephrology societies. Anonymised data were submitted online for any child (ag

COVID-19 in Children Treated with Immunosuppressive Medication for Kidney Diseases

BACKGROUND: Children are recognised as at lower risk of severe COVID-19 compared with adults, but the impact of immunosuppression is yet to be determined. This study aims to describe the clinical course of COVID-19 in children with kidney disease taking immunosuppressive medication and to assess disease severity. METHODS: Cross-sectional study hosted by the European Rare Kidney Disease Reference Network and supported by the European, Asian and International paediatric nephrology societies. Anonymised data were submitted online for any child (age \u3c20 \u3eyears) with COVID-19 taking immunosuppressive medication for a kidney condition. Study recruited for 16 weeks from 15 March 2020 to 05 July 2020. The primary outcome was severity of COVID-19. RESULTS: 113 children were reported in this study from 30 different countries. Median age: 13 years (49% male). Main underlying reasons for immunosuppressive therapy: kidney transplant (47%), nephrotic syndrome (27%), systemic lupus erythematosus (10%). Immunosuppressive medications used include: glucocorticoids (76%), mycophenolate mofetil (MMF) (54%), tacrolimus/ciclosporine A (58%), rituximab/ofatumumab (11%). 78% required no respiratory support during COVID-19 illness, 5% required bi-level positive airway pressure or ventilation. Four children died; all deaths reported were from low-income countries with associated comorbidities. There was no significant difference in severity of COVID-19 based on gender, dialysis status, underlying kidney condition, and type or number of immunosuppressive medications. CONCLUSIONS: This global study shows most children with a kidney disease taking immunosuppressive medication have mild disease with SARS-CoV-2 infection. We therefore suggest that children on immunosuppressive therapy should not be more strictly isolated than children who are not on immunosuppressive therapy