Publications by authors named "Svetlana Papizh"
Article Synopsis
- Pathogenic variants in the SLC34A1 and SLC34A3 genes, responsible for sodium-phosphate transport, lead to rare phosphate wasting conditions, primarily in children, with various clinical presentations and outcomes.
- A study analyzed data from 113 patients across 90 families, revealing distinct symptoms: SLC34A1 carriers mostly show issues in infancy, while SLC34A3 carriers experience symptoms into childhood and adulthood, including a significantly higher prevalence of chronic kidney disease in adulthood.
- Biochemical markers were similar for both groups, indicating some common underlying mechanisms, and phosphate treatment yielded partial improvements in certain enzyme levels but raised parathyroid hormone levels, suggesting a complex interaction between treatments and kidney function.
Background: We aimed to develop a tool for predicting HNF1B mutations in children with congenital abnormalities of the kidneys and urinary tract (CAKUT).
Methods: The clinical and laboratory data from 234 children and young adults with known HNF1B mutation status were collected and analyzed retrospectively. All subjects were randomly divided into a training (70%) and a validation set (30%).
Article Synopsis
- This study examined parathyroid hormone (PTH) levels and phosphate balance in 589 patients with Bartter and Gitelman syndromes, which are conditions that cause salt loss from the kidneys.
- It found that 56% of patients with Bartter syndrome type I and II had elevated PTH levels, indicating frequent hyperparathyroidism, which was linked to lower serum calcium levels.
- Additionally, 22% of the patients had low serum phosphate levels, particularly those with Bartter syndrome type III, suggesting renal phosphate wasting as a common issue in these syndromes.
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
Nephrol Dial Transplant
December 2020
Background: Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome.
Methods: Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form.
Results: Data were collected on 315 patients (22 countries, male 84%, adults 35%).
Background: Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein cystinosin. CTNS mutations result in either complete absence or reduced cystine transporting function of the protein.
View Article and Find Full Text PDFBackground And Objectives: Autosomal dominant polycystic kidney disease is the most common inheritable kidney disease, frequently thought to become symptomatic in adulthood. However, patients with autosomal dominant polycystic kidney disease may develop signs or symptoms during childhood, in particular hypertension. Although ambulatory BP monitoring is the preferred method to diagnose hypertension in pediatrics, data in children with autosomal dominant polycystic kidney disease are limited.
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