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Cystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body's tissues. It has been classified into three subtypes based on its clinical presentation: severe infantile nephropathic cystinosis, intermediate mild form, and ocular non-nephropathic adult form. We report a teenage girl who presented with end stage kidney disease as her first presentation and was found to have corneal cystine crystals upon ophthalmic evaluation. Genetic testing confirmed that she has a CTNS variant, a CTNS variant c.520A > C p.(Ser174Arg) never described in the literature previously. Full family genetic screening supported the diagnosis. She was started on oral and ocular cysteamine and maintained on peritoneal dialysis for a few months and eventually underwent a successful deceased donor kidney transplantation. These findings expand the spectrum of CTNS gene variants and highlight the potential of atypical and severe presentations of this variant during adolescence. [ABSTRACT FROM AUTHOR]

Background: Nephrotic syndrome is the most common kidney disease in children worldwide. Our aim was to critically appraise the quality of recent Clinical Practice Guidelines (CPGs) for idiopathic steroid-sensitive nephrotic syndrome (SSNS) in children in addition to summarize and compare their recommendations. Methods: Systematic review of CPGs. We identified clinical questions and eligibility criteria and searched and screened for CPGs using bibliographic and CPG databases. Each included CPG was assessed by four independent appraisers using the Appraisal of Guidelines for REsearch & Evaluation II (AGREE-II) instrument. We summarized the recommendations in a comparison practical table. Results: Our search retrieved 282 citations, of which three CPGs were eligible and appraised: Kidney Disease: Improving Global Outcomes (KDIGO) 2012, Japan Society for Pediatric Nephrology (JSPN) 2014, and American Academy of Pediatrics (AAP) 2009. Among these, the overall assessment of two evidence-based CPGs scored > 70% (KDIGO and JSPN), which was consistent with their higher scores in the six domains of the AGREE II Instrument. In domain 3 (rigor of development), KDIGO, JSPN, and AAP scored 84%, 74%, and 41%, respectively. In domain 5 (applicability), they scored 22%, 16%, and 19%, respectively, and in domain 6 (editorial independence), they scored 94%, 65%, and 88%, respectively. Conclusions: The methodological quality of the KDIGO CPG was superior, followed by JSPN and AAP CPGs with the relevant recommendations for use in practice. Systematic review registration: The protocol was registered in the Center for Open Science (OSF) DOI: 10.17605/OSF.IO/6QTMD and in the International prospective register of systematic reviews PROSPERO 2020 CRD42020197511. [ABSTRACT FROM AUTHOR]

Background: Kidney transplantation (KTX) is the best treatment for children with end-stage kidney disease (ESKD). It greatly improves their quality of life. Children's growth is one of the chronic issues that is known to be compromised during ESKD; therefore, catch-up growth is usually expected to be seen after KTX., Objectives: We aimed to evaluate children's catchup growth after KTX and assess the impact of children's age at the time of KTX on catchup growth., Patients and Methods: We performed a retrospective analysis of weight and height data for children pre-KTX, at 12 months, and 24 months post KTX. We stratified them into five percentile categories for weight and height and counted the number of KTX patients in each category at the same three time points. We also stratified them into three different age groups: two to five, six to 10, and 11 to 12 years, and estimated the mean and standard deviation of both weight and height of each one., Results: Between 2009 and 2019, we identified 37 children who underwent KTX. The mean weight pre-KTX was 21 kg. It increased to 28 and 34 kg post KTX at 12 and 24 months, respectively. The mean height pre-KTX was 115 cm. It increased to 126 and 134 cm post KTX at 12 and 24 months, respectively. There was a significant crossing of both weight and height percentiles when we stratified them based on different initial percentiles. There was a significant change in both weight and height when we stratified them into three age groups: two to five, six to 10, and 11 to 14 years., Conclusion: The growth patterns of children after a KTX can vary among children. However, our retrospective observational study showed positive results, suggesting gradual improvement in weight and height gain post KTX. Factors such as age at the time of KTX, duration of kidney disease, medication regimens, and overall health status can influence a child's growth trajectory. Close monitoring, proper nutrition, and a multidisciplinary approach are essential in supporting a child's growth after a KTX. Our findings are limited by the small sample size and retrospective design, therefore a well-structured prospective study with a large sample size is required., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Elamin et al.)

Objectives: To estimate the prevalence of emergency cases reporting to Primary Health Care centers (PHC), Jeddah, Saudi Arabia and to explore the barriers facing PHC physicians when dealing with such emergency cases., Methods: A cross-sectional analytic study, where all physicians working in the PHC of the Ministry of Health (MOH) in Jeddah; were invited to participate (n=247). The study period was from July 2013 till December 2013. Data were collected through two sources. 1- A self-administered questionnaire used to determine the physicians' perceived competence when dealing with emergency cases. 2- A structured observation sheet used to evaluate availability of equipment, drugs, ambulances and other supporting facilities required to deal with emergency cases., Results: The response rate was 83.4%. The physicians' age ranged between 25 and 60 years with a mean ±SD of 34.4±7.5 years. Majority of them (83.5%) did not attend ATLS courses at all whereas 60.7% never attended ACLS courses. The majority (97.1%) had however attended BLS courses. Physicians in the age group 36-45 years, non-Saudi, those who had SBFM, those who reported experience in working in emergency departments and physicians who reported more working years in PHCCs (>5 years) had a significant higher score of perceived level of competence in performing emergency skill scale than others (P<0.05). The prevalence of emergency cases attending PHC in Jeddah (2013) was 5.2%., Conclusion: Emergency services at PHC in Jeddah are functioning reasonably well, but require fine tuning of services and an upgrade in their quality., Competing Interests: The authors declare that there is no conflict of interests regarding the publication of this paper.