Multiple cysts in the liver autosomal dominant polycystic liver disease

被引：0

作者：

Karimbeg, A. A. ^{[1
]}

Loffeld, R. J. L. F. ^{[1
]}

机构：

[1] Zaans Med Ctr, Dept Internal Med, Zaandam, Netherlands

来源：

NETHERLANDS JOURNAL OF MEDICINE | 2006年 / 64卷 / 06期

关键词：

autosomal dominant polycystic liver disease; liver cysts; polycystic liver disease;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A 45-year-old woman was admitted because of abdominal pain and a feeling of fullness. Ultrasound and CT scan of the abdomen showed a massively enlarged liver with hundreds of cysts and displacement of the right kidney. There were no cysts in the kidneys. Because several members of her family also had multiple cysts in the liver, the diagnosis of autosomal dominant polycystic liver disease (PCLD) was made. Genetic analysis demonstrated a protein kinase C substrate 80 K-H (PRKCSH) gene mutation (1338-2A > G) and confirmed the clinical diagnosis. A brief review of the genetics and possible treatments is given.

引用

页码：199 / 201

页数：3

共 15 条

[1] New advances in evaluation and management of patients with polycystic liver disease [J].

Arnold, HL ;

Harrison, SA .

AMERICAN JOURNAL OF GASTROENTEROLOGY, 2005, 100 (11) :2569-2582

[2] Polycystic liver disease: Experience at a teaching hospital [J].

Bistritz, L ;

Tamboli, C ;

Bigam, D ;

Bain, VG .

AMERICAN JOURNAL OF GASTROENTEROLOGY, 2005, 100 (10) :2212-2217

[3] Fibropolycystic liver disease: CT and MR imaging findings [J].

Brancatelli, G ;

Federle, MP ;

Vilgrain, V ;

Vullierme, MP ;

Marin, D ;

Lagalla, R .

RADIOGRAPHICS, 2005, 25 (03) :659-670

[4]

CHAUVEAU D, 1993, 12 INT C NEPHR C PRO, pA487

[5] Management of polycystic liver disease [J].

Cheung , J ;

Scudamore, CH ;

Yoshida, EM .

CANADIAN JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2004, 18 (11) :666-670

[6] Mutations in SEC63 cause autosomal dominant polycystic liver disease [J].

Davila, S ;

Furu, L ;

Gharavi, AG ;

Tian, X ;

Onoe, T ;

Qian, Q ;

Li, AR ;

Cai, YQ ;

Kamath, PS ;

King, BF ;

Azurmendi, PJ ;

Tahvanainen, P ;

Kääriäinen, H ;

Höckerstedt, K ;

Devuyst, O ;

Pirson, Y ;

Martin, RS ;

Lifton, RP ;

Tahvanainen, E ;

Torres, VE ;

Somlo, S .

NATURE GENETICS, 2004, 36 (06) :575-577

[7] Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease [J].

Drenth, JPH ;

Morsche, RHMT ;

Smink, R ;

Bonifacino, JS ;

Jansen, JBMJ .

NATURE GENETICS, 2003, 33 (03) :345-347

[8] Polycystic disease of the liver [J].

Everson, GT ;

Taylor, MRG ;

Doctor, RB .

HEPATOLOGY, 2004, 40 (04) :774-782

[9]

EVERSON GT, 2005, GASTROENTEROL REP, V7, P19

[10]

KARHUNEN PJ, 1986, CLIN GENET, V30, P29

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