The genetic spectrum of polycystic kidney disease in children
Rev. Assoc. Med. Bras. (1992, Impr.)
;
69(11): e20230334, 2023. tab
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1521483
ABSTRACT
SUMMARY OBJECTIVE:
Autosomal dominant polycystic kidney disease is an inherited kidney disorder with mutations in polycystin-1 or polycystin-2. Autosomal recessive polycystic kidney disease is a severe form of polycystic kidney disease that is characterized by enlarged kidneys and congenital hepatic fibrosis. Mutations at PKHD1 are responsible for all typical forms of autosomal recessive polycystic kidney disease.METHODS:
We evaluated the children diagnosed with polycystic kidney disease between October 2020 and May 2022. The diagnosis was established by family history, ultrasound findings, and/or genetic analysis. The demographic, clinical, and laboratory findings were evaluated retrospectively.RESULTS:
There were 28 children (male/female 1117) evaluated in this study. Genetic analysis was performed in all patients (polycystin-1 variants in 13, polycystin-2 variants in 7, and no variants in 8 patients). A total of 18 variants in polycystin-1 and polycystin-2 were identified and 9 (50%) of them were not reported before. A total of eight novel variants were identified as definite pathogenic or likely pathogenic mutations. There was no variant detected in the PKDH1 gene.CONCLUSION:
Our results highlighted molecular features of Turkish children with polycystic kidney disease and demonstrated novel variations that can be utilized in clinical diagnosis and prognosis.
Full text:
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Index:
LILACS (Americas)
Language:
English
Journal:
Rev. Assoc. Med. Bras. (1992, Impr.)
Journal subject:
EducaÆo em Sa£de
/
GestÆo do Conhecimento para a Pesquisa em Sa£de
/
Medicine
Year:
2023
Type:
Article
Affiliation country:
Turkey
Institution/Affiliation country:
Eskisehir City Hospital/TR
/
Isparta City Hospital/TR
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