| Item type |
☆紀要論文 / Departmental Bulletin Paper(1) |
| 公開日 |
2018-07-26 |
| タイトル |
|
|
タイトル |
<Original> Genetic Factors Associated with Congenital Anomalies of the Kidney and Urinary Tract Associated and a Spectrum of Extrarenal Disorders |
|
言語 |
en |
| 著者 |
Fukushima, Kyoji
Sugimoto, Keisuke
Miyazaki, Kohei
Miyazawa, Tomoki
Enya, Takuji
Nishi, Hitomi
Okada, Mitsuru
Takemura, Tsukasa
|
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
主題 |
gene mutation, renal dysmorphism, extrarenal abnormalities |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
departmental bulletin paper |
| 著者 所属 |
|
|
値 |
Department of Pediatrics, Kindai University Faculty of Medicine |
| 著者 所属 |
|
|
値 |
Department of Pediatrics, Kindai University Faculty of Medicine |
| 著者 所属 |
|
|
値 |
Department of Pediatrics, Kindai University Faculty of Medicine |
| 著者 所属 |
|
|
値 |
Department of Pediatrics, Kindai University Faculty of Medicine |
| 著者 所属 |
|
|
値 |
Department of Pediatrics, Kindai University Faculty of Medicine |
| 著者 所属 |
|
|
値 |
Department of Pediatrics, Kindai University Faculty of Medicine |
| 著者 所属 |
|
|
値 |
Department of Pediatrics, Kindai University Faculty of Medicine |
| 著者 所属 |
|
|
値 |
Department of Pediatrics, Kindai University Faculty of Medicine |
| 版 |
|
|
出版タイプ |
NA |
|
出版タイプResource |
http://purl.org/coar/version/c_be7fb7dd8ff6fe43 |
| 出版者 名前 |
|
|
出版者 |
Kindai University Medical Association |
| 書誌情報 |
en : ACTA MEDICA KINDAI UNIVERSITY
巻 43,
号 1,
p. 9-17,
発行日 2018-06
|
| ISSN |
|
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収録物識別子タイプ |
ISSN |
|
収録物識別子 |
03866092 |
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
[Abstract] Background. Several genes, including those of the renin-angiotensin system (RAS), act in concert to guide mammalian renal development from early nephrogenesis to definitive nephron formation. Aberrant forms of genes involved in nephrogenesis alter kidney development, leading to congenital anomalies of the kidney and urinary tract. Methods. We analyzed the main genes involved in nephrogenesis, PAX2, RET and RAS-related genes, in 17 children with renal dysmorphism. Results. A total of 17 cases were reviewed;pathogenic variants were identified in four and incidental variants in three. Two of three patients with PAX2 abnormalities manifested renal coloboma syndrome. No eye lesion was present in the third, who exhibited a frame-shift mutation from heterozygous insertion of T in exon 11; facial and skeletal abnormalities were detected. In analysis of RAS-related genes, an angiotensinogen gene(AGT) mutation (M268T) was identified in a patient exhibiting dwarf kidney, facial and skeletal abnormalities, mental retardation, and pituitary hyperplasia. Another patient exhibited an angiotensin II receptor type 1 (AGTR1) gene mutation (p.L191L). A renal specimen showed tubular dysgenesis; extrarenal abnormalities included skull ossification defects. RET abnormality was detected in two patients with heterozygous mutations. One exhibited Hirschsprung disease and right renal agenesis. The other exhibited oligomeganephronia and hypothyroidism but not multiple endocrine neoplasia nor medullary thyroid carcinoma (MTC); the etiology of these abnormalities is unclear, as is the patient’s risk for MTC. Follow-up is necessary. Conclusions. Gene aberration was detected in seven of 17 patients (41%). Unidentified genetic causes may contribute to pathophysiology in the remaining 10 patients. |
| フォーマット |
|
|
内容記述タイプ |
Other |
|
内容記述 |
application/pdf |
AA0050842X-20180600-0009.pdf (1.7 MB)
