Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.
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ABSTRACT:
SUBMITTER: Al Alawi I
PROVIDER: S-EPMC6895654 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Publications
Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.
Al Alawi Intisar I Al Salmi Issa I Al Rahbi Fatma F Al Riyami Mohamed M Al Kalbani Naifain N Al Ghaithi Badria B Al Mawali Adhra A Sayer John A JA
Kidney international reports 20190830 12
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Project description:BackgroundIdentifying genetic mutations in individuals with inherited cystic kidney disease is necessary for precise treatment. We aimed to elucidate the genetic characteristics of cystic kidney disease in the Korean population.MethodsWe conducted a 3-year prospective, multicenter cohort study at eight hospitals from May 2019 to May 2022. Patients with more than three renal cysts were enrolled and classified into two categories, typical autosomal dominant polycystic kidney disease (ADPKD) and atypical PKD. We identified the clinical characteristics and performed a genetic analysis using a targeted gene panel.ResultsA total of 725 adult patients were included in the study, of which 560 (77.2%) were diagnosed with typical ADPKD and 165 (22.8%) had atypical PKD. Among the typical ADPKD cases, the Mayo imaging classification was as follows: 1A (55, 9.9%), 1B (149, 26.6%), 1C (198, 35.8%), 1D (90, 16.3%), and 1E (61, 11.0%). The atypical PKD cases were classified as bilateral cystic with bilateral atrophic (31, 37.3%), lopsided (27, 32.5%), unilateral (nine, 10.8%), segmental (eight, 9.6%), bilateral cystic with unilateral atrophic (seven, 8.4%), and asymmetric (one, 1.2%). Pathogenic variants were found in 64.3% of the patients using the ciliopathy-related targeted gene panel. The typical ADPKD group demonstrated a higher discovery rate (62.3%) than the atypical PKD group (41.8%).ConclusionWe present a nationwide genetic cohort's baseline clinical and genetic characteristics for Korean cystic kidney disease.
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Project description:<p>Samples were chosen for sequencing from a set of probands from pedigrees with apparently inherited forms of focal segmental glomerulosclerosis (FSGS). Several genes have been identified which when mutated cause FSGS under both recessive and dominant inheritance patterns. These known genes are estimated to explain less than 50% of inherited FSGS. We chose samples from individuals in which previous analyses of known disease genes failed to identify likely disease-causing mutations.</p>
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