naa a22 4500 510814212 CHVBK 20180411083457.0 cr unu---uuuuu 180411e20131001xx s 000 0 eng 10.1007/s12328-013-0413-y doi (NATIONALLICENCE)springer-10.1007/s12328-013-0413-y Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation [Elektronische Daten] [Yutaka Honda, Yuichi Sato, Junji Yokoyama, Masaaki Kobayashi, Rintaro Narisawa, Yusuke Kawauchi, Takahiro Hoshi, Kazuhito Yajima, Tatsuo Kanda, Yoichi Ajioka, Katsuyoshi Hatakeyama, Yutaka Aoyagi] Juvenile polyposis syndrome (JPS) is a dominantly inherited disorder characterized by the development of numerous juvenile polyps (JPs) of the gastrointestinal tract, and associated with a mutation of the SMAD4 or BMPR1A gene. Here, we report a mother−daughter case of familial JPS. A 29-year-old female patient with severe iron deficiency anemia and hypoproteinemia had numerous polyps in the stomach and a few polyps in the ileum and colon that were detected endoscopically. Biopsy specimens from the gastric polyps were diagnosed as JPs. The patient underwent a laparoscopy-assisted total gastrectomy, and her anemia and hypoproteinemia improved. Her mother also had multiple JPs in the stomach, duodenum, jejunum, and colon. We then diagnosed them as having familial JPS. Moreover, germline mutation analysis of the 2 patients presented a novel pathogenic SMAD4 variant. Springer Japan, 2013 Familial juvenile polyposis syndrome nationallicence SMAD4 germline mutation nationallicence Gastric polyp nationallicence Protein losing gastropathy nationallicence Laparoscopy-assisted total gastrectomy nationallicence Honda Yutaka Department of Endoscopy, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut Sato Yuichi Division of Gastroenterology and Hepatology, Graduate School of Medical and Dental Science, Niigata University, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut Yokoyama Junji Department of Gastroenterology, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut Kobayashi Masaaki Department of Endoscopy, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut Narisawa Rintaro Department of Endoscopy, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut Kawauchi Yusuke Department of Endoscopy, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut Hoshi Takahiro Division of Gastroenterology and Hepatology, Graduate School of Medical and Dental Science, Niigata University, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut Yajima Kazuhito Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, 951-8510, Niigata City, Japan aut Kanda Tatsuo Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, 951-8510, Niigata City, Japan aut Ajioka Yoichi Division of Molecular and Diagnostic Pathology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut Hatakeyama Katsuyoshi Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, 951-8510, Niigata City, Japan aut Aoyagi Yutaka Division of Gastroenterology and Hepatology, Graduate School of Medical and Dental Science, Niigata University, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut Clinical Journal of Gastroenterology Springer Japan 6/5(2013-10-01), 361-367 1865-7257 6:5<361 2013 6 12328 https://doi.org/10.1007/s12328-013-0413-y text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s12328-013-0413-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Honda Yutaka Department of Endoscopy, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut NATIONALLICENCE 700 1- Sato Yuichi Division of Gastroenterology and Hepatology, Graduate School of Medical and Dental Science, Niigata University, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut NATIONALLICENCE 700 1- Yokoyama Junji Department of Gastroenterology, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut NATIONALLICENCE 700 1- Kobayashi Masaaki Department of Endoscopy, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut NATIONALLICENCE 700 1- Narisawa Rintaro Department of Endoscopy, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut NATIONALLICENCE 700 1- Kawauchi Yusuke Department of Endoscopy, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut NATIONALLICENCE 700 1- Hoshi Takahiro Division of Gastroenterology and Hepatology, Graduate School of Medical and Dental Science, Niigata University, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut NATIONALLICENCE 700 1- Yajima Kazuhito Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, 951-8510, Niigata City, Japan aut NATIONALLICENCE 700 1- Kanda Tatsuo Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, 951-8510, Niigata City, Japan aut NATIONALLICENCE 700 1- Ajioka Yoichi Division of Molecular and Diagnostic Pathology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut NATIONALLICENCE 700 1- Hatakeyama Katsuyoshi Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, 951-8510, Niigata City, Japan aut NATIONALLICENCE 700 1- Aoyagi Yutaka Division of Gastroenterology and Hepatology, Graduate School of Medical and Dental Science, Niigata University, 1-757 Asahimachi-dori, Chuo-ku, 951-8510, Niigata City, Japan aut NATIONALLICENCE 773 0- Clinical Journal of Gastroenterology Springer Japan 6/5(2013-10-01), 361-367 1865-7257 6:5<361 2013 6 12328 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer