J 2010

Mass ascites in Mulibrey nanism

HUSOVÁ, Libuše, Petr HUSA and Tomáš BRYCHTA

Basic information

Original name

Mass ascites in Mulibrey nanism

Name in Czech

Masivní ascites u pacienta s Mulibrey syndromem

Authors

HUSOVÁ, Libuše (203 Czech Republic, guarantor), Petr HUSA (203 Czech Republic) and Tomáš BRYCHTA (203 Czech Republic)

Edition

Journal of Pediatric Endocrinology and Metabolism, Tel Aviv, Freund Publishing House Ltd. 2010, 0334-018X

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30200 3.2 Clinical medicine

Country of publisher

Israel

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 0.887

RIV identification code

RIV/00216224:14110/10:00044628

Organization unit

Faculty of Medicine

UT WoS

000282928800003

Keywords (in Czech)

Mulibreysyndrom;ascites;Wilmsův tumor;konstriktivní perikarditida

Keywords in English

Mulibrey nanism; Ascites; Wilms tumor; Constrictive pericarditis

Tags

International impact, Reviewed
Změněno: 1/9/2010 08:30, prof. MUDr. Petr Husa, CSc.

Abstract

V originále

Mulibrey nanism is a rare inherited disease characterized by growth failure and multi-organ manifestations. Mulibrey nanism is extremely rare in the Czech Republic,only this one patient has been reported yet. Mass ascites was the main clinical finding in this 22-year-old male patient. Combined treatment with spironolactone and furosemide improved significantly the patients quality of life and allowed conservative treatment of ascites with no need of repeated punctures. Current clinical status of the patient was satisfactory but various complications in the future are very probable because this patient has multiple organs, especially cardial, impairment.

Links

MUNI/A/1006/2009, interní kód MU
Name: Nové diagnostické a léčebné postupy u metabolických chorob
Investor: Masaryk University, Category A