Fatal Rhabdomyolysis in 2 Children with LPIN1 Mutations

被引：46

作者：

Bergounioux, Jean ^{[1
]}

Brassier, Anais ^{[3
]}

Rambaud, Caroline ^{[2
]}

Bustarret, Olivier ^{[1
]}

Michot, Caroline ^{[3
,4
]}

Hubert, Laurence ^{[3
,4
,5
]}

Arnoux, Jean Baptiste ^{[3
]}

Laquerriere, Annie ^{[6
]}

Bekri, Soumeya ^{[7
]}

Galene-Gromez, Sophie ^{[8
]}

Bonnet, Damien ^{[9
]}

Hubert, Philippe ^{[1
]}

de Lonlay, Pascale ^{[3
,4
]}

机构：

[1] Hosp Necker Enfants Malad, Assistance Publ Hop Paris, Pediat Intens Care Unit, F-75015 Paris, France

[2] Hop Raymond Poincare, Dept Forens Med, Garches, France

[3] Hosp Necker Enfants Malad, Assistance Publ Hop Paris, Reference Ctr Metab Dis, F-75015 Paris, France

[4] Hosp Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

[5] Paris Descartes Univ, Paris, France

[6] Hop Charles Nicolle, Dept Forens Med, Rouen, France

[7] Hop Charles Nicolle, Dept Biochem, Rouen, France

[8] Hop Charles Nicolle, Pediat Intens Care Unit, Rouen, France

[9] Hosp Necker Enfants Malad, Assistance Publ Hop Paris, Pediat Cardiol Dis M3C, F-75015 Paris, France

来源：

JOURNAL OF PEDIATRICS | 2012年 / 160卷 / 06期

关键词：

CHILDHOOD;

D O I：

10.1016/j.jpeds.2012.02.033

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report 2 cases of fatal rhabdomyolysis in children carrying an LPIN1 mutations preceded by similar electrocardiogram changes, including diffuse symmetrical high-amplitude T waves. Our report underlines the severity of this disease and the need for active management of episodes of rhabdomyolysis in a pediatric intensive care unit. (J Pediatr 2012; 160:1052-4)

引用

页码：1052 / 1054

页数：3

共 8 条

[1] The syndrome of rhabdomyolysis: Complications and treatment
Chatzizisis, Yiannis S.
Misirli, Gesthimani
Hatzitolios, Apostolos I.
Giannoglou, George D.
[J]. EUROPEAN JOURNAL OF INTERNAL MEDICINE, 2008, 19 (08) : 568 - 574
[2] Early and vigorous fluid resuscitation prevents acute renal failure in the crush victims of catastrophic earthquakes
Gunal, AI
Celiker, H
Dogukan, A
Ozalp, G
Kirciman, E
Simsekli, H
Gunay, I
Demircin, IGM
Belhan, O
Yildirim, MA
Sever, MS
[J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2004, 15 (07): : 1862 - 1867
[3] The Saccharomyces cerevisiae lipin homolog is a Mg2+-dependent phosphatidate phosphatase enzyme
Han, GS
Wu, WI
Carman, GM
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2006, 281 (14) : 9210 - 9218
[4] Relationship of glucose and oleate metabolism to cardiac function in lipin-1 deficient (fld) mice
Kok, Bernard P. C.
Kienesberger, Petra C.
Dyck, Jason R. B.
Brindley, David N.
[J]. JOURNAL OF LIPID RESEARCH, 2012, 53 (01) : 105 - 118
[5] LPIN1 Gene Mutations: A Major Cause of Severe Rhabdomyolysis in Early Childhood
Michot, Caroline
Hubert, Laurence
Brivet, Michele
De Meirleir, Linda
Valayannopoulos, Vassili
Mueller-Felber, Wolfgang
Venkateswaran, Ramesh
Ogier, Helene
Desguerre, Isabelle
Altuzarra, Cecilia
Thompson, Elizabeth
Smitka, Martin
Huebner, Angela
Husson, Marie
Horvath, Rita
Chinnery, Patrick
Vaz, Frederic M.
Munnich, Arnold
Elpeleg, Orly
Delahodde, Agnes
de Keyzer, Yves
de Lonlay, Pascale
[J]. HUMAN MUTATION, 2010, 31 (07) : E1564 - E1573
[6] Cardiac lipin 1 expression is regulated by the peroxisome proliferator activated receptor γ coactivator 1α/estrogen related receptor axis
Mitra, Mayurranjan S.
Schilling, Joel D.
Wang, Xiaowei
Jay, Patrick Y.
Huss, Janice M.
Su, Xiong
Finck, Brian N.
[J]. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2011, 51 (01) : 120 - 128
[7] ABC of clinical electrocardiography - Conditions not primarily affecting the heart
Slovis, C
Jenkins, R
[J]. BRITISH MEDICAL JOURNAL, 2002, 324 (7349): : 1320 - 1323
[8] Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood
Zeharia, Avraharn
Shaag, Avraham
Houtkooper, Riekelt H.
Hindi, Tareq
de Lonlay, Pascale
Erez, Gilli
Hubert, Laurence
Saada, Ann
de Keyzer, Yves
Eshel, Gideon
Vaz, Frederic M.
Pines, Ophry
Elpeleg, Orly
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (04) : 489 - 494

← 1 →