Discordant endocrinopathy in a sibling with Shwachman-Diamond syndrome

被引：6

作者：

Kawashima, Hisashi

Ushio, Masanobu

Aritaki, Kentarou

Kashiwagi, Yasuyo

Watanabe, Chiako

Nishimata, Shigeo

Takekuma, Kouji

Hoshika, Akinori

Taneichi, Hiromichi

Kanegane, Hirokazu

机构：

[1] Tokyo Med Univ, Dept Pediat, Shinjuku Ku, Tokyo 1600023, Japan

[2] Toyama Univ, Fac Med, Dept Pediat, Toyama 930, Japan

来源：

JOURNAL OF TROPICAL PEDIATRICS | 2006年 / 52卷 / 06期

关键词：

Shwachman-Diamond syndrome; DM; chronic hepatitis; neutropenia; fatty change; SBDS;

D O I：

10.1093/tropej/fml050

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

[No abstract available]

引用

页码：445 / 447

页数：3

共 11 条

[1] SHWACHMANS SYNDROME - A REVIEW OF 21 CASES [J].

AGGETT, PJ ;

CAVANAGH, NPC ;

MATTHEW, DJ ;

PINCOTT, JR ;

SUTCLIFFE, J ;

HARRIES, JT .

ARCHIVES OF DISEASE IN CHILDHOOD, 1980, 55 (05) :331-347

[2] The Shwachman-Diamond SBDS protein localizes to the nucleolus [J].

Austin, KM ;

Leary, RJ ;

Shimamura, A .

BLOOD, 2005, 106 (04) :1253-1258

[3] Mutations in SBDS are associated with Shwachman-Diamond syndrome [J].

Boocock, GRB ;

Morrison, JA ;

Popovic, M ;

Richards, N ;

Ellis, L ;

Durie, PR ;

Rommens, JM .

NATURE GENETICS, 2003, 33 (01) :97-101

[4] Shwachman-Diamond syndrome: Clinical phenotypes [J].

Cipolli, M .

PANCREATOLOGY, 2001, 1 (05) :543-548

[5] PANCREATIC INSUFFICIENCY WITH BONE MARROW DYSFUNCTION (SHWACHMAN-DIAMOND-OSKI-KHAWS SYNDROME) REPORT OF A CASE [J].

HIGASHI, O ;

HAYASHI, T ;

OHARA, K ;

HONDA, Y ;

KONNO, T ;

SATO, Y ;

YOSHIDA, T ;

DOHI, S ;

TAKEZAWA, Y .

TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1967, 92 (01) :1-12

[6] Genetic analysis of Shwachman-Diamond syndrome:: Phenotypic heterogeneity in patients carrying identical SBDS mutations [J].

Kawakami, T ;

Mitsui, T ;

Kanai, M ;

Shirahata, E ;

Sendo, D ;

Kanno, M ;

Noro, M ;

Endoh, M ;

Hama, A ;

Tono, C ;

Ito, E ;

Tsuchiya, S ;

Igarashi, Y ;

Abukawa, D ;

Hayasaka, K .

TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2005, 206 (03) :253-259

[7] Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression [J].

Mack, DR ;

Forstner, GG ;

Wilschanski, M ;

Freedman, MH ;

Durie, PR .

GASTROENTEROLOGY, 1996, 111 (06) :1593-1602

[8] Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome [J].

Nakashima, E ;

Mabuchi, A ;

Makita, Y ;

Masuno, M ;

Ohashi, H ;

Nishimura, G ;

Ikegawa, S .

HUMAN GENETICS, 2004, 114 (04) :345-348

[9]

SHWACHMAN H, 1964, J PEDIATR, V65, P645

[10] Pancreatic disease in children and young adults: Evaluation with CT [J].

Vaughn, DD ;

Jabra, AA ;

Fishman, EK .

RADIOGRAPHICS, 1998, 18 (05) :1171-1187

← 1 2 →