Clinical trial NCT06418230: EXOME SEQUENCING IN MEDULLARY SPONGE KIDNEY
Official title: EXOME SEQUENCING IN MEDULLARY SPONGE KIDNEY
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Medulary Sponge Kidney
Keywords: exome
nephrolithiasis
medullary sponge kidney
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2024-05-17
Enrollment: 80
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 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

Brief summary: 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.


Eligibility criteria: Inclusion Criteria:

* medullary sponge kidney attending medical consultation
* consent signed
* affiliated to social insurance scheme

Exclusion Criteria:

* legal protection measure (guardianship, curatorship)
* Deprived of liberty by a judicial or administrative decision
* subject participating in another research including an exclusion period still in progress at inclusion

Primary outcomes:
measure: Class 3, 4 and 5 variants detected at exome-sequencing
timeFrame: Baseline
Secondary outcomes:
Other outcomes:
Locations:
city: Lyon
country: France
facility: Hôpital Edouard Herriot
city: Marseille
country: France
facility: Hôpital de la Conception
Study officials:
References: