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During the congress, E-Posters will be accessible to all participants on the congress website 24/7, as well as in the E-poster stations in the congress center.
Preparing your E-Poster
Please review the E-Poster format requirements carefully when preparing your E-Poster. Should your E-Poster not meet the mentioned requirements, it may not be displayed as described above.
E-Poster Submission Deadline
Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
Please follow the instructions below to input your abstract title.
Abstract titles should be brief and reflect the content of the abstract.
Primary hyperoxaluria (PH) results from genetic mutations in different genes of glyoxylate metabolism, which cause a significant increase in the 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.
A single-center observational cohort study was conducted at Children’s University Hospital in Damascus, and included all patients admitted in a period of 3 years, from 2018 to 2020, and the diagnosis was hyperoxaluria (Urinary oxalate excretion > 45 mg/1.73 m2/day, or > 0.5 mmol/1.73 m2/day). The diagnosis of PH type 1(PH1) was established by identification biallelic pathogenic variants (compound heterozygous or homozygous mutations) in AGXT gene on molecular genetic testing.
The study included 100 patients with hyperoxaluria, with slight male dominance (57%), and median age 1.75 years, ranged from 1 month to 14 years. At time of presentation, the initial complaint was urolithiasis or nephrocalcinosis in 47% of patients, manifestations of renal failure in 29 % of patients, and recurrent urinary tract infections in 24% of patients. By genetic testing, AGXT mutations were detected (and the diagnosis was PH1) in 40 patients, and 72.5% of PH1 patients had kidney failure at presentation. All of gender, age and urinary oxalate excretion in 24 hours did not have statistical significance in distinguishing between PH1 and other forms of hyperoxaluria (P-Value > 0.05). While parental consanguinity, family history of kidney stones, bilateral nephrocalcinosis, presence of oxalate crystals in random urine sample, presence of kidney failure and mortality were higher in PH1 with statistical significance (P-Value < 0.05). We reported a mortality rate of 32.5% among PH1 patients, and 4 patients of PH1 patients (10%) were on hemodialysis waiting for combined liver and kidney transplantation.
PH1 is still grave disease with wide variety of clinical presentation which causes frequent delays in diagnosis. Thus, ESKD is still a common presentation. Prompt recognition, early diagnosis and rigorous management are essential to preserve kidney function as long as possible. Fortunately, new promising RNAi therapeutics are on the horizon for PH patients. However, in Syria, we are facing lots of challenges in the diagnosis of PH, especially PH2 and PH3, and in the management, hoping that diagnosis tools and modern therapies will become available in our country.
