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  • 〈Original〉Genetic Factors Associated with Congenital Anomalies of the Kidney and Urinary Tract Associated and a Spectrum of Extrarenal Disorders

    Fukushima Kyoji , Sugimoto Keisuke , Miyazaki Kohei , Miyazawa Tomoki , Enya Takuji , Nishi Hitomi , Okada Mitsuru , Takemura Tsukasa

    … Aberrant forms of genes involved in nephrogenesis alter kidney development, leading to congenital anomalies of the kidney and urinary tract. … We analyzed the main genes involved in nephrogenesis, PAX2, RET and RAS-related genes, in 17 children with renal dysmorphism. … Two of three patients with PAX2 abnormalities manifested renal coloboma syndrome. … RET abnormality was detected in two patients with heterozygous mutations. …

    ACTA MEDICA KINDAI UNIVERSITY = The Kindai University Medical Association 43(1), 9-17, 2018-06

    IR  Ichushi Web 

  • Oligomeganephronia with multiple anomalies.  [in Japanese]

    YUI IKUKO , AWAZU MIDORI , TAKEUCHI YOSHINAO , FUKUDA JUNYA , HANADA TETSUYA , SAKAGUCHI HIROSHI

    … A male Japanese baby weighing 2830g was born to a mother with Addison's disease, who had been treated with hydrocortisone during her pregnancy. … He was admitted immediately after birth because of tachypnea and multiple anomalies, i. … At 13 months of age, he was readmitted with pneumonia. … Unexplained fever and polyuria persisted, and dehydration with diarrhea occurred frequently. …

    The Japanese Journal of Nephrology 26(11), 1529-1537, 1984

    J-STAGE 

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