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Background Primary hyperoxaluria (PH) results from genetic mutations in different genes of glyoxylate metabolism, which cause significant increases in production of oxalate by the liver. This study aimed to report clinical and laboratory manifestations and outcome of PH type 1 in children in our center. Methods A single-center observational cohort study was conducted at Children's University Hospital in Damascus, and included all patients admitted from 2018 to 2020, with a diagnosis of hyperoxaluria (urinary oxalate excretion > 45 mg/1.73 m.sup.2/day, or > 0.5 mmol/1.73 m.sup.2/day). PH type 1 (PH1) diagnosis was established by identification of biallelic pathogenic variants (compound heterozygous or homozygous mutations) in AGXT gene on molecular genetic testing. Results The study included 100 patients with hyperoxaluria, with slight male dominance (57%), and median age 1.75 years (range, 1 month-14 years). Initial complaint was urolithiasis or nephrocalcinosis in 47%, kidney failure manifestations in 29%, and recurrent urinary tract infection in 24%. AGXT mutations were detected in 40 patients, and 72.5% of PH1 patients had kidney failure at presentation. Neither gender, age nor urinary oxalate excretion in 24 h had statistical significance in distinguishing PH1 from other forms of hyperoxaluria (P-Value > 0.05). Parental consanguinity, family history of kidney stones, bilateral nephrocalcinosis, presence of oxalate crystals in random urine sample, kidney failure and mortality were statistically significantly higher in PH1 (P-values < 0.05). Mortality was 32.5% among PH1 patients, with 4 PH1 patients (10%) on hemodialysis awaiting combined liver-kidney transplantation. Conclusion PH1 is still a grave disease with wide variety of clinical presentations which frequent results in delays in diagnosis, thus kidney failure is still a common presentation. In Syria, we face many challenges in diagnosis of PH, especially PH2 and PH3, and in management, with hopes that diagnosis tools and modern therapies will become available in our country., Author(s): Hala Wannous [sup.1] [sup.2] Author Affiliations: (1) grid.8192.2, 0000 0001 2353 3326, Faculty Member of Pediatric Nephrology in Faculty of Medicine, Damascus University, , Damascus, Syria (2) grid.8192.2, 0000 [...]

Background Pediatric urinary stone disease (USD) is a costly medical problem. This study aims to assess the clinical characteristics and outcomes of common and rare causes of pediatric USD. Methods A retrospective descriptive cohort study included all children < 13 years of age with confirmed USD admitted to the Children's University Hospital in Damascus, Syria, from January 2013 to December 2019. The study sample was divided into two groups based on etiologies: common and rare causes groups. Results We evaluated 235 patients; 147 of them were males, and the male-to-female ratio was 1.7:1. The common causes group consisted of 203 patients (mean age 3.52 ± 3.66 years) and mainly included metabolic disorders (45.5%) and anatomical abnormalities (22.3%), while the rare causes group included 32 cases (mean age 4.93 ± 4.08 years), 12 patients with uric acid stones (37.5%), 7 patients with cystinuria (21.9%), and primary hyperoxaluria in 5 patients (15.6%). In addition, 39.6% of study patients were born to consanguineous marriages. Sixty-two patients developed AKI, and eleven patients had chronic kidney disease (CKD). Patients with rare causes were more likely to have AKI, CKD, bilateral stones, and recurrent stones (P-value < 0.05). Stone analysis was performed on 83 patients, and the main stone types were calcium oxalate (34.9%), uric acid (14.4%), and struvite stones (12%). Surgery was the most performed treatment in 101 patients (56.7%). Conclusion Patients with rare causes of pediatric USD are at a higher risk for severe complications and require early diagnosis and management. The high rate of uric acid stones in our society requires further evaluation for possible underlying causes. Graphical abstract, Author(s): Mohamad Klib [sup.1] , Munir Ghandour [sup.2] , Hala Wannous [sup.3] Author Affiliations: (1) grid.8192.2, 0000 0001 2353 3326, Faculty of Medicine, Damascus University, , Damascus, Syria (2) grid.8192.2, [...]

Background Protocol biopsies can detect subclinical rejection and early signs of calcineurin inhibitor-induced nephrotoxicity. Methods In a prospective study, protocol biopsies 3 and 12 months after transplant in transplanted children from two centers were studied. One center used cyclosporine (CsA)-based immunosuppression and the other center used tacrolimus. Patients were on CsA (n = 26, group 1) or on tacrolimus (n = 10, group 2). Patients received basiliximab induction, mycophenolate mofetil, and prednisone. Results In patients on CsA, 26 kidney biopsies were performed during the 6 months after transplantation. Eighteen protocol biopsies were performed at 3 months post transplant; 13 were normal and five showed rejection (two borderline and three Banff II rejections). Eight biopsies were motivated by an increase of serum creatinine; four were normal and four revealed signs of acute rejection (two borderline and two Banff II). Twelve protocol biopsies were performed after 12 months; all were normal. For patients on tacrolimus (n = 10), ten protocol transplant biopsies were performed at 3 months post-transplant; none showed signs of rejection. No biopsy was performed for an increase of serum creatinine. There were no differences in patient age, number of human leukocyte-antigen (HLA) incompatibilities, or other patient characteristics. Conclusions Patients on tacrolimus had less acute rejection episodes detected on protocol biopsies 3 months after transplant. Protocol biopsies seem to play an important role in the detection of subclinical rejection in patients on CsA. Keywords Protocol biopsies * Children * Acute rejection * Subclinical rejection * Renal transplantation, Introduction The incidence of acute rejection and graft loss in the first year after kidney transplantation has decreased since the introduction of potent immunosuppressive protocols. However, interstitial fibrosis and tubular [...]

Cardiovascular complications are the main cause of death in end-stage renal failure in adult patients, but those complications start in childhood. Renal transplantation (RT) seems to reduce or even reverse certain abnormalities seen in dialyzed patients. Since RT seems to correct metabolic abnormalities that play a role in cardiovascular disease, aortic pulse wave velocity (APWV) was used to evaluate aortic stiffness before and after RT. We included 15 children on chronic hemodialysis (HD), aged 11.1 ± 4.8 years and dialysis duration was 12.9 ± 7.4 months. APWV was performed every 6 months before RT and 6 months after. There was no significant difference in APWV (6.1 ± 1.3 m/s vs 6.5 ± 1.4 m/s) and augmentation index (AI) on HD and 6 months after RT. APWV pre-transplant was not correlated with time on HD, but increased with age (p=0.016). No correlation between APWV pre-/post-transplant and other HD parameters or calcineurin inhibitor exposure were found. Only graft function was inversely correlated with APWV post-transplant (p=0.02). In conclusion, aortic stiffness seems to remain stable before and 6 months after pediatric RT. Graft function was inversely correlated with APWV. Differences in vessel structure among children of the same age group and increase in aortic stiffness with age may jeopardize data interpretation. Keywords Hemodialysis * Vascular stiffness * Renal transplantation * Aortic pulse wave velocity * Children * Cardiovascular disease, Introduction Cardiovascular complications are the main cause of morbidity and mortality among patients with end-stage renal disease (ESRD), mainly in adults, but also in children [1]. Despite the lower exposure [...]

Sirs, Patients with nephrotic syndrome (NS) are at risk of developing pneumococcal infections, such as peritonitis, pneumonia ± pleural effusion, and meningitis [1], with the reported incidence of such infections [...]