ArticleClinical journal of the American Society of Nephrology : CJASN2010
Identification of GDNF gene sequence variations in patients with medullary sponge kidney disease.
Article in Clinical journal of the American Society of Nephrology : CJASN, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 48 citations in OpenAlex.
- Porous perspectives: a comprehensive review of medullary sponge kidney.International urology and nephrology · 2025Review
- Article
- Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease.Kidney international reports · 2022Article
- Sphingomyelin and Medullary Sponge Kidney Disease: A Biological Link Identified by Omics Approach.Frontiers in medicine · 2021Article
- Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.Kidney international reports · 2020Article
- Ultrasound to address medullary sponge kidney: a retrospective study.BMC nephrology · 2020Article
- Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.International journal of molecular sciences · 2020Review
- Urinary proteome in inherited nephrolithiasis.Urolithiasis · 2019Review
- Human proximal tubular cells can form calcium phosphate deposits in osteogenic culture: role of cell death and osteoblast-like transdifferentiation.Cell death discovery · 2019Article
- Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report.Journal of medical case reports · 2018Article
- Efficacy of Multi-Detector Computed Tomography for the Diagnosis of Medullary Sponge Kidney.Current urology · 2018Article
- Caspase-independent programmed cell death triggers CaBioscience reports · 2018Article
- Article
- The genetic framework for development of nephrolithiasis.Asian journal of urology · 2017Review
- Recent advances in managing and understanding nephrolithiasis/nephrocalcinosis.F1000Research · 2016Review
- What is nephrocalcinosis?Kidney international · 2015Review
- Spontaneous calcification process in primary renal cells from a medullary sponge kidney patient harbouring a GDNF mutation.Journal of cellular and molecular medicine · 2015Article
- Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.F1000Research · 2014Review
- Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.Molecular genetics and metabolism · 2011Article
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesMedullary sponge kidney (MSK) is a rare nephropathy characterized by cystic anomalies of precalyceal ducts, nephrocalcinosis, renal stones, and tubule dysfunctions. Its association with various malformations and cases of familial aggregation supports the conviction that genetic factors are involved, but no genetic studies have been conducted to date. It is hypothesized that MSK is due to a disruption at the "ureteric bud/metanephric blastema" interface caused by critical developmental genes functioning abnormally. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Fifty-five apparently sporadic MSK patients were analyzed by direct DNA sequencing of all exons and exon-intron boundaries of glial cell-derived neurotrophic factor (GDNF) gene and rearranged during transfection (RET) gene, which have a leading role in renal development.
resultsTwo novel variants were found in heterozygosity in the MSK case population: GDNF{ENST00000344622}:c.-45G>C and c.-27+18G>A in a putative binding domain for paired-box 2 transcription factor. As a whole, eight patients showed these variations: four patients carried the c.[-45G>C; -27+18G>A] complex allele, and the others had the c.-27+18G>A alone. A case-control study revealed that these two alleles were significantly associated with MSK. Five of the eight cases were found to be familial, and the allele variants cosegregated with the disease in a seemingly dominant pattern of inheritance. Patients revealed no mutations in the RET gene.
conclusionsThis is the first report identifying GDNF gene sequence variations in patients with MSK and suggesting a role for this gene in the pathogenesis of some cases of the disease.
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