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Congenital porto–left renal venous shunt as a cause of galactosaemia
Author(s) -
Mizoguchi N.,
Sakura N.,
Ono H.,
Naito K.,
Hamakawa M.
Publication year - 2001
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005615023698
Subject(s) - shunt (medical) , medicine , galactosemia , gastroenterology , cardiology , endocrinology , surgery , galactose , biology , biochemistry
Congenital porto–left renal venous (PRV) shunt was found to be the cause of galactosaemia in four galactosaemic neonates detected by mass screening (Paigen method). The patients did not have hereditary galactosaemias and were diagnosed as having galactosaemia of unknown cause, because porto–systemic venous (PS) shunts had not been recognized. At the time of diagnosis, hypergalactosaemia was not severe (0.44–0.55 mmol/L; 8–10 mg/dl) and plasma concentration of total bile acids (TBA) did not suggest a PS shunt (46–50 μmol/L). However, slightly but consistently increased concentrations of galactose and TBA strongly suggested the presence of a PS shunt, and careful ultrasonographic investigation revealed PRV shunt. We conclude that PRV shunt should be suspected in patients with hypergalactosaemia of unknown cause.