An observational study in Medulary Sponge Kidney, sponsored by Hospices Civils de Lyon. Active, not recruiting at 2 sites in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2024-05-17.
Sponsored by Hospices Civils de Lyon · Observational
Medullary sponge kidney is a rare, underdiagnosed renal pathology, characterized by precalyceal dilatation of the renal tubes associated with active and recurrent stone disease with nephrocalcinosis, hypercalciuria and tubular dysfunction with, for example, acidification and urinary concentration defects.
The pathophysiology is poorly understood The prevalence and etiopathogenesis of the disease is not known Medullary sponge kidney is often characterized as a congenital pathology with delayed expression due to reported cases occurring in early childhood and associations with other congenital renal and extra-renal malformative pathologies, such as Wilms tumors, horseshoe kidney, contralateral renal hypoplasia, Beckwith-Wiedemann syndrome, Caroli disease, or congenital hepatic fibrosis, for example. However, no clear demonstration of the congenital nature has been established so far, and it is considered a sporadic disease.
However familial cases have been reported with an autosomal dominant mode.
The pathophysiology may involve disruptions in renal organogenesis, which depends on reciprocal inductive interactions necessary to coordinate nephrogenesis between the ureteric bud and the metanephric blastema during the 5th week of embryonic development. Some authors suggested that the GDNF and RET genes may be involved in the physiopathology of the disease.
For instance 12% of heterozygous patients for rare GDNF variants were identified in an Italian cohort of 57 medullary sponge kidney patients.
Other genes have been suggested to be involved in the pathophysiology based on reported cases, with no direct relationship demonstrated and their role remain putative Medullary sponge kidney disease is a debilitating condition, with the main symptoms being recurrent kidney stones and urinary infections.
Additional data are needed to determine the involvement of genetic anomalies in the pathophysiology of the condition.
The aim of the study is to describe the genetic variants identified with exome sequencing in medullary sponge kidney patients, in order to optimize management, especially for familial forms, and therapeutic interventions.
158 studies on the registry are indexed under Polycystic Kidney Diseases; 21 are open to participants now.
This study's enrollment of 80 is below the median of 154 across 39 observational studies indexed under Polycystic Kidney Diseases.
Browse Polycystic Kidney Diseases studies →Hospices Civils de Lyon is the lead sponsor of 1,826 studies on the registry; 439 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The patients will be selected from the hospital Edouard Herriot nephrology and urology departments and frome from the hospital de la Conception nephrology and urology departments Around 80 Medullary sponge kidney patients are followed at these nephrology and urology departments
Exclusion Criteria:
medullary sponge kidney attending medical consultation
Class 3, 4 and 5 variants detected at exome-sequencing
Time frame: Baseline
This study is active, not recruiting, as verified in May 2024. You cannot join it, but the record below documents what was studied.
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Medullary Sponge Kidney
Hospices Civils de Lyon