Search

BackgroundSphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) is a recently recognized inborn error of metabolism associated with steroid-resistant nephrotic syndrome as well as adrenal insufficiency and immunological, neurological, and skin manifestations. SPLIS is caused by inactivating mutations in SGPL1, encoding the pyridoxal 5'phosphate-dependent enzyme sphingosine-1-phosphate lyase, which catalyzes the final step of sphingolipid metabolism. Some SPLIS patients have undergone kidney transplantation, and others have been treated with vitamin B6 supplementation. In addition, targeted therapies including gene therapy are in preclinical development. In anticipation of clinical trials, it will be essential to characterize the full spectrum and natural history of SPLIS. We performed a retrospective analysis of 76 patients in whom the diagnosis of SPLIS was established in a proband with at least one suggestive finding and biallelic SGPL1 variants identified by molecular genetic testing. The main objective of the study was to identify factors influencing survival in SPLIS subjects.ResultsOverall survival at last report was 50%. Major influences on survival included: (1) age and organ involvement at first presentation; (2) receiving a kidney transplant, and (3) SGPL1 genotype. Among 48 SPLIS patients with nephropathy who had not received a kidney transplant, two clinical subgroups were distinguished. Of children diagnosed with SPLIS nephropathy before age one (n = 30), less than 30% were alive 2 years after diagnosis, and 17% were living at last report. Among those diagnosed at or after age one (n = 18), ~ 70% were alive 2 years after diagnosis, and 72% were living at time of last report. SPLIS patients homozygous for the SPL R222Q variant survived longer compared to patients with other genotypes. Kidney transplantation significantly extended survival outcomes.ConclusionOur results demonstrate that SPLIS is a phenotypically heterogeneous condition. We find that patients diagnosed with SPLIS nephropathy in the first year of life and patients presenting with prenatal findings represent two high-risk subgroups, whereas patients harboring the R222Q SGPL1 variant fare better than the rest. Time to progression from onset of proteinuria to end stage kidney disease varies from less than one month to five years, and kidney transplantation may be lifesaving.

Cystinosis is a rare autosomal recessive disorder in which cystine crystals accumulate within the cellular lysosomes, causing damage to multiple organs. Due to challenges with the stringent cysteamine treatment regimen and side effects, adherence is often sub-optimal. This study aimed to assess the level of adherence to cysteamine therapy among cystinosis patients in Saudi Arabia and its impact on their quality of life. Electronic medical record data of 39 cystinosis patients from the Department of Nephrology at King Faisal Specialist Hospital and Research Center in Saudi Arabia were reviewed, and 25 patients were included in this study. Out of the 25 patients included in the final analysis, 64% (n = 16) were female. The mean age was 19.04 years. Almost all patients (23/25, 92%) were on oral IR cysteamine therapy, and 52% (13/25) were on topical cysteamine eye drop treatment. Of the 15 patients who responded to the Morisky Medication Adherence Scale-8 (MMAS-8) questionnaire, only 4 (26.7%) were highly adherent to cysteamine therapy. Most of the respondents (7/15, 46.7%) showed a medium level of treatment adherence. Based on the medication possession ratio for oral cysteamine, only 6 out of 23 patients (26.1%) were found to be 96–100% adherent. For the cysteamine eye drops, only 5/13 patients (38.4%) were 76–95% adherent. The 36-Item Short Form Health Survey (SF-36) used to assess patients' health-related outcomes showed that their quality of life was affected in the domains of 'social functioning' and 'energy/fatigue.' Despite a small sample size, this study shows sub-optimal adherence to cysteamine treatment in patients from Saudi Arabia. The possible reasons for low treatment adherence could be a high frequency of administration and treatment-related side effects. [ABSTRACT FROM AUTHOR]

Clinical practice guidelines (CPGs) are systematically developed statements backed by scientific evidence to assist practitioners in management in clinical practice. An international cross-sectional survey was conducted by the IPNA to examine the perceptions of pediatric nephrologists on guidelines and their usage and to identify important diseases for future clinical practice guidelines (CPGs). The survey found that the majority of pediatric nephrologists find CPGs useful in clinical practice and admitted to using them most of the time. Developing CPGs is challenging and there are standards available to develop trustworthy guidelines. While evidence-based global guidelines are ideal, pediatric nephrologists expressed the desire that they address regional differences. Most respondents (89.2%) to the survey agreed that adult guidelines did not cover the pediatric perspective adequately and 71.4% opined that consensus-based pediatric guidelines can be developed when evidence for the pediatric population is lacking. The development of high-quality practice guidelines requires substantial resources and may not be feasible in resource-poor countries. Adaptation of an existing guideline has been suggested as an alternative and the ADAPTE collaboration provides a systematic approach to adapting guidelines. Several diseases where pediatric guidelines are needed as a priority including IgA and C3 glomerulopathy were identified in the survey. Implementation of guideline-based care is challenging and the survey found that lack of availability of guidelines (43%) and resources (22.8%) are important reasons for poor implementation in lower-middle and low-income countries. Perceived complexity of guidelines, physician attitudes, and lack of training also contribute to non-adherence to guidelines., Author(s): Pankaj Hari [sup.1] , Khalid Alhasan [sup.2] , Arvind Bagga [sup.1] , Melvin Bonilla-Felix [sup.3] , Paula Alejandra Coccia [sup.4] , Ali Duzova [sup.5] , Ill-So Ha [sup.6] , [...]

Background: Dialysis disequilibrium syndrome (DDS) is a rare but significant concern in adult and pediatric patients undergoing dialysis initiation with advanced uremia or if done after an interval. It is imperative to gain insights into the epidemiological patterns, pathophysiological mechanisms, and preventive strategies aimed at averting the onset of this ailment. Design: Prospective observational quality improvement initiative cohort study. Setting and Participants: A prospective single‐center study involving 50 pediatric patients under 18 years recently diagnosed with chronic kidney disease stage V with blood urea ≥200 mg/dL, admitted to our tertiary care center for dialysis initiation from January 2017 to October 2023. Quality Improvement Plan: A standardized protocol was developed and followed for hemodialysis in pediatric patients with advanced uremia. This protocol included measures such as lower urea reduction ratios (targeted at 20%–30%) with shorter dialysis sessions and linear dialysate sodium profiling. Prophylactic administration of mannitol and 25% dextrose was also done to prevent the incidence of dialysis disequilibrium syndrome. Measures: Incidence of dialysis disequilibrium syndrome and severe dialysis disequilibrium syndrome, mortality, urea reduction ratios (URRs), neurological outcome at discharge, and development of complications such as infection and hypotension. Long‐term outcomes were assessed at the 1‐year follow‐up including adherence to dialysis, renal transplantation, death, and loss to follow‐up. Results: The median serum creatinine and urea levels at presentation were 7.93 and 224 mg/dL, respectively. A total of 20% of patients had neurological symptoms attributable to advanced uremia at the time of presentation. The incidence of dialysis disequilibrium syndrome was 4% (n = 2) with severe dialysis disequilibrium syndrome only 2% (n = 1). Overall mortality was 8% (n = 4) but none of the deaths were attributed to dialysis disequilibrium syndrome. The mean urea reduction ratios for the first, second, and third dialysis sessions were 23.45%, 34.56%, and 33.50%, respectively. The patients with dialysis disequilibrium syndrome were discharged with normal neurological status. Long‐term outcomes showed 88% adherence to dialysis and 38% renal transplantation. Limitations: This study is characterized by a single‐center design, nonrandomized approach, and limited sample size. Conclusions: Our structured protocol served as a framework for standardizing procedures contributing to low incidence rates of dialysis disequilibrium syndrome. [ABSTRACT FROM AUTHOR]

Background: Organ transplantation is inherently dependent on the availability of organ donors. There is a noticeable paucity of literature addressing the rates of organ donation registration and the awareness of Islamic regulations (Fatwa) regarding organ donation within Saudi Arabia. Our study aimed to evaluate the level of organ donation registration, awareness of Islamic regulations, and knowledge of the Saudi Center for Organ Transplantation (SCOT) within the Saudi society. Methods: We conducted a cross-sectional survey from 30 March to 9 April 2023. This survey aimed to assess the awareness of Islamic (Fatwa) guidance on organ donation, the role of SCOT, and the rate of organ donation registration facilitated through the Tawakkalna app, the official health passport application in Saudi Arabia. Results: Out of 2329 respondents, 21% had registered as potential deceased organ donors, despite 87% acknowledging the importance of organ donation. Awareness of the Islamic Fatwa regarding organ donation was reported by 54.7% of respondents, and 37% recognized the Fatwa's acceptance of brain death criteria. The likelihood of registration as organ donors was higher among Saudi citizens under 45 years of age, females, healthcare workers (HCWs), individuals with higher education, relatives of patients awaiting organ donations, those informed about the Islamic Fatwas, and those willing to donate organs to friends. Conversely, being over the age of 25, Saudi nationality, employment as an HCW, awareness of SCOT, and prior organ donation registration were predictive of a heightened awareness of Islamic Fatwas. However, perceiving the importance of organ donation correlated with a lower awareness of the Fatwas. Significant positive correlations were found between awareness of SCOT, awareness of Fatwas, and registration for organ donation. Conclusions: While the Saudi population exhibits a high regard for the importance of organ donation, this recognition is not adequately translated into registration rates. The discrepancy may be attributable to limited awareness of SCOT and the relevant Islamic Fatwas. It is imperative to initiate organ donation awareness campaigns that focus on religious authorization to boost organ donation rates and rectify prevalent misconceptions. [ABSTRACT FROM AUTHOR]

AI algorithms can help identify patients at risk of kidney disease, predict the progression of kidney disease and personalise treatment plans based on individual patient data. ChatGPT answer 2: Artificial intelligence (AI) has the potential to revolutionise kidney care by helping clinicians better predict, diagnose and treat kidney diseases. AI and kidney care ChatGPT answer 1: Artificial intelligence (AI) has the potential to revolutionise kidney care by providing more accurate and timely diagnosis, treatment, and monitoring of kidney diseases. Keywords: AI; ChatGPT EN AI ChatGPT 1844 1848 5 08/10/23 20230901 NES 230901 Abbreviations AI artificial intelligence Rapid advances have been made in artificial intelligence (AI) and researchers are constantly increasing their use of this technology. [Extracted from the article]