Harefuah · 2025
[Monogenic Kidney Diseases in Children - Five Years of Experience from a Dedicated Nephrogenetic Clinic in Southern Israel].
Аннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Schreiber Ruth, Kebesch Rebbeka, Dolgin Vadim, Agam Nadav, Hadar Noam, Wormser Ohad, Kanengisser-Pines Bibi, Narkis Ginat, Amar Shirly, Eskin-Schwartz Marina, Geylis Michael, Koifman Arie, Birk Ohad
Аннотация
BACKGROUND: Monogenic kidney diseases account for approximately one-third of chronic kidney disease (CKD) etiologies in children. Genetic diagnosis enables disease characterization, targeted therapies, long-term prognostic assessment, identification of multisystem involvement, and detection of at-risk relatives. Genetic testing may improve early diagnosis, carrier detection, and prevention of inherited kidney disease in consanguineous populations.
OBJECTIVES: To describe the establishment of a nephrogenetic clinic at Soroka Medical Center and to report the diagnostic yield and genetic findings from the first five years of activity.
METHODS: Founded in 2019, the clinic is a joint initiative of the Genetics Institute and the Pediatric Nephrology unit. Children with suspected monogenic kidney disease are referred for evaluation. Following a clinical and family history review, a tailored diagnostic workup is conducted, including karyotype, chromosomal microarray, targeted gene panels, or whole exome sequencing (WES). In unresolved cases with a high index of suspicion to genetic etiology, further testing is conducted in a research setting. Results are delivered through genetic counseling, including clinical recommendations. The clinic operates as a multidisciplinary model with coordinated follow-up.
RESULTS: A total of 145 patients were evaluated, including 50 siblings from 20 families. Most were male (58.6%) and of Bedouin origin (80%). Parental consanguinity was reported in 41% of families. Genetic testing was performed in 89 patients (61.4%), identifying a pathogenic or likely pathogenic variants in 76.4%. The most common clinical presentations were tubulopathies (23.4%), cystic or ciliopathy disease (20.7%), nephrolithiasis or nephrocalcinosis (19.3%), and congenital anomalies of the kidney and urinary tract (CAKUT) (13.1%). Three novel variants in C1GALT1C1, PKHD1 and REN genes were identified in the research setting.
CONCLUSIONS: The establishment and operation of a dedicated nephrogenetic clinic in a population with a high rate of consanguinity resulted in a diagnostic yield of 76.4% among patients suspected of having monogenic kidney disease. This model has enabled personalized care and reproductive counseling, and may serve as a template for similar initiatives in other high-risk pediatric and adult populations.
OBJECTIVES: To describe the establishment of a nephrogenetic clinic at Soroka Medical Center and to report the diagnostic yield and genetic findings from the first five years of activity.
METHODS: Founded in 2019, the clinic is a joint initiative of the Genetics Institute and the Pediatric Nephrology unit. Children with suspected monogenic kidney disease are referred for evaluation. Following a clinical and family history review, a tailored diagnostic workup is conducted, including karyotype, chromosomal microarray, targeted gene panels, or whole exome sequencing (WES). In unresolved cases with a high index of suspicion to genetic etiology, further testing is conducted in a research setting. Results are delivered through genetic counseling, including clinical recommendations. The clinic operates as a multidisciplinary model with coordinated follow-up.
RESULTS: A total of 145 patients were evaluated, including 50 siblings from 20 families. Most were male (58.6%) and of Bedouin origin (80%). Parental consanguinity was reported in 41% of families. Genetic testing was performed in 89 patients (61.4%), identifying a pathogenic or likely pathogenic variants in 76.4%. The most common clinical presentations were tubulopathies (23.4%), cystic or ciliopathy disease (20.7%), nephrolithiasis or nephrocalcinosis (19.3%), and congenital anomalies of the kidney and urinary tract (CAKUT) (13.1%). Three novel variants in C1GALT1C1, PKHD1 and REN genes were identified in the research setting.
CONCLUSIONS: The establishment and operation of a dedicated nephrogenetic clinic in a population with a high rate of consanguinity resulted in a diagnostic yield of 76.4% among patients suspected of having monogenic kidney disease. This model has enabled personalized care and reproductive counseling, and may serve as a template for similar initiatives in other high-risk pediatric and adult populations.