MyMedR

Displaying all 3 publications

Abstract:

Sort:

Fulltext IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome

Trautmann A, Vivarelli M, Samuel S, Gipson D, Sinha A, Schaefer F, et al.

Pediatr Nephrol, 2020 Aug;35(8):1529-1561.
PMID: 32382828 DOI: 10.1007/s00467-020-04519-1

Idiopathic nephrotic syndrome newly affects 1-3 per 100,000 children per year. Approximately 85% of cases show complete remission of proteinuria following glucocorticoid treatment. Patients who do not achieve complete remission within 4-6 weeks of glucocorticoid treatment have steroid-resistant nephrotic syndrome (SRNS). In 10-30% of steroid-resistant patients, mutations in podocyte-associated genes can be detected, whereas an undefined circulating factor of immune origin is assumed in the remaining ones. Diagnosis and management of SRNS is a great challenge due to its heterogeneous etiology, frequent lack of remission by further immunosuppressive treatment, and severe complications including the development of end-stage kidney disease and recurrence after renal transplantation. A team of experts including pediatric nephrologists and renal geneticists from the International Pediatric Nephrology Association (IPNA), a renal pathologist, and an adult nephrologist have now developed comprehensive clinical practice recommendations on the diagnosis and management of SRNS in children. The team performed a systematic literature review on 9 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions, formulated recommendations and formally graded them at a consensus meeting, with input from patient representatives and a dietician acting as external advisors and a voting panel of pediatric nephrologists. Research recommendations are also given.
Fulltext FAT1 mutations cause a glomerulotubular nephropathy

Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, et al.

Nat Commun, 2016 Feb 24;7:10822.
PMID: 26905694 DOI: 10.1038/ncomms10822

Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease (CKD). Here we show that recessive mutations in FAT1 cause a distinct renal disease entity in four families with a combination of SRNS, tubular ectasia, haematuria and facultative neurological involvement. Loss of FAT1 results in decreased cell adhesion and migration in fibroblasts and podocytes and the decreased migration is partially reversed by a RAC1/CDC42 activator. Podocyte-specific deletion of Fat1 in mice induces abnormal glomerular filtration barrier development, leading to podocyte foot process effacement. Knockdown of Fat1 in renal tubular cells reduces migration, decreases active RAC1 and CDC42, and induces defects in lumen formation. Knockdown of fat1 in zebrafish causes pronephric cysts, which is partially rescued by RAC1/CDC42 activators, confirming a role of the two small GTPases in the pathogenesis. These findings provide new insights into the pathogenesis of SRNS and tubulopathy, linking FAT1 and RAC1/CDC42 to podocyte and tubular cell function.
Fulltext Global Burden of Anorexia Nervosa and Bulimia Nervosa, 1990 to 2023, With Forecasts to 2050: A Global Burden of Disease Study 2023 Analysis

Bai R, Dong W, Wang X, Zhang A, Santomauro DF, GBD Eating Disorders Collaborators, et al.

JAMA Psychiatry, 2026 Oct 28.
PMID: 42949727 DOI: 10.1001/jamapsychiatry.2026.3457

IMPORTANCE: Eating disorders are a major cause of nonfatal mental health burden, yet global evidence on their long-term trends, geographic distribution, and future trajectories remains limited.
OBJECTIVE: To estimate the global, regional, and national prevalence and disability burden of anorexia nervosa and bulimia nervosa-and mortality attributable to anorexia nervosa-from 1990 to 2023, and to forecast prevalence to 2050.
DESIGN, SETTING, AND PARTICIPANTS: Using Global Burden of Disease (GBD) 2023 methods, data were synthesized from systematic literature reviews, population surveys, and vital registration systems. Estimates were produced for 204 countries and territories from 1990 to 2023, with forecasts through 2050. These data were analyzed from October 2025 to August 2026.
EXPOSURE: Anorexia nervosa or bulimia nervosa diagnosis.
MAIN OUTCOMES AND MEASURES: Counts and age-standardized rates with 95% uncertainty intervals (UIs) for anorexia nervosa and bulimia nervosa prevalence, years lived with disability (YLDs), and disability-adjusted life-years (DALYs), and anorexia nervosa mortality, reported by age, sex, and location.
RESULTS: In 2023, an estimated 18.1 million people (95% UI, 13.9-24.0) globally were living with anorexia nervosa or bulimia nervosa, of whom 12.6 million (69.4%) were female, 5.5 million were male (30.6%), and 41.2% were aged 10 to 24 years. These cases accounted for 3.83 million DALYs (95% UI, 2.23-5.69). Since 1990, the global number of prevalent cases increased by 71.0%, while age-standardized prevalence and DALY rates rose by about 21%. Females experienced substantially higher prevalence and DALY rates than males. The highest age-standardized prevalence rates were observed in high-income regions, particularly Australasia and Western Europe, whereas the largest relative increases in age-standardized prevalence occurred in East Asia, South Asia, and Southeast Asia. Forecasts indicate continued increases in prevalent cases through 2050.
CONCLUSIONS AND RELEVANCE: This GBD 2023 analysis found that anorexia nervosa and bulimia nervosa contribute substantially to global nonfatal health loss. These findings support the integration of eating disorders into mental health surveillance, prevention, and service planning worldwide.

Filters

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links