Remittent hyperammonemia in congenital portosystemic shunt

被引：24

作者：

Ferrero, Giovanni Battista ^{[1
]}

Porta, Francesco ^{[1
]}

Biamino, Elisa ^{[1
]}

Mussa, Alessandro ^{[1
]}

Garelli, Emanuela ^{[1
]}

Chiappe, Francesca ^{[2
]}

Veltri, Andrea ^{[3
]}

Silengo, Margherita Cirillo ^{[1
]}

Gennari, Fabrizio ^{[4
]}

机构：

[1] Univ Turin, Dept Pediat, I-10126 Turin, Italy

[2] CNR, Ist Neurogenet & Neurofarmacol, Cagliari, Italy

[3] Univ Turin, Inst Diagnost & Intervent Radiol, I-10126 Turin, Italy

[4] Univ Turin, San Giovanni Battista Hosp, Liver Transplantat Ctr, I-10126 Turin, Italy

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 2010年 / 169卷 / 03期

关键词：

Congenital portosystemic shunt; Patent ductus venosus; Hyperammonemia; Protein loading test; PATENT DUCTUS VENOSUS;

D O I：

10.1007/s00431-009-1031-z

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Congenital portosystemic shunts (PSS) are rare vascular anomalies with different gross anatomy. Persistent patent ductus venosus (PDV) represents an uncommon cause of intrahepatic PSS. The diagnosis of this condition may not be obvious because of its wide spectrum of clinical manifestations, ranging from asymptomatic to life-threatening disease. We report the case of three boys with neuropsychological symptoms associated with mild fasting hyperammonemia. An oral protein load allowed the detection of a detoxication defect due to PSS related to PDV. This simple procedure can be worthwhile of attention in patients with mental retardation, behavior disturbances, and learning difficulties after exclusion of common causes of inherited hyperammonemia, namely, urea cycle disorders, organic acidemias, and fatty acid oxidation defects.

引用

页码：369 / 372

页数：4

共 12 条

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