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  • Key words: Cl− Channel — Organic Anions — Phosphate — NPPB  (1)
  • Newborn screening  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 156 (1997), S. 719-722 
    ISSN: 1432-1076
    Keywords: Key words Intrahepatic haemangioma ; Portosystemic venous shunting ; Hypergalactoseamia of the newborn ; Hyperammonaemia ; Newborn screening
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Hypergalactosaemia was found in 4 day-old boy during newborn screening. He had no enzyme deficiency but an intrahepatic vascular malformation permitting significant portosystemic venous shunting. The shunt caused hyperammonaemia, accentuated after meals, alimentary hyperglycaemia and hypergalactosaemia, and excess excretion of lactic, 3-hydroxy butyric and other organic acids in urine. Portal venous flow was unimpaired. The vascular anomaly regressed during the first 7 months of life. At this age, full tolerance to lactose-containing cows milk formula was evidenced by the normalization of pre- and postprandial blood glucose, ammonia and galactose, and closure of the shunt was confirmed by ultrasonography. This is one of the few observations of congenital intrahepatic venous shunt regressing spontaneously during infancy. Conclusion A congenital intrahepatic portosystemic venous shunt can cause hypergalactosaemia in the newborn and hyperammonaemia in the small infant. The malformation may resolve spontaneously obviating the need for intervention.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1424
    Keywords: Key words: Cl− Channel — Organic Anions — Phosphate — NPPB
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract. Expression of the protein NaPi-1 in Xenopus oocytes has previously been shown to induce an outwardly rectifying Cl− conductance (GCl), organic anion transport and Na+-dependent P i -uptake. In the present study we investigated the relation between the NaPi-1 induced GCl and P i -induced currents and transport. NaPi-1 expression induced P i -transport, which was not different at 1–20 ng/oocyte NaPi-1 cRNA injection and was already maximal at 1–2 days after cRNA injection. In contrast, GCl was augmented at increased amounts of cRNA injection (1–20 ng/oocyte) and over a five day expression period. Subsequently all experiments were performed on oocytes injected with 20 ng/oocytes cRNA. P i -induced currents (Ip) could be observed in NaPi-1 expressing oocytes at high concentrations of P i (≥ 1 mm P i ). The amplitudes of Ip correlated well with GCl. Ip was blocked by the Cl− channel blocker NPPB, partially Na+-dependent and completely abolished in Cl− free solution. In contrast, P i -transport in NaPi-1 expressing oocytes was not NPPB sensitive, stronger depending on extracellular Na+ and weakly affected by Cl− substitution. Endogenous P i -uptake in water-injected oocytes amounted in all experiments to 30–50% of the Na+-dependent P i -transport observed in NaPi-1 expressing oocytes. The properties of the endogenous P i -uptake system (K m for P i 〉 1 mm; partial Na+- and Cl−-dependence; lack of NPPB block) were similar to the NaPi-1 induced P i -uptake, but no Ip could be recorded at P i -concentrations ≤3 mm. In summary, the present data suggest that Ip does not reflect charge transfer related to P i -uptake, but a P i -mediated modulation of GCl.
    Type of Medium: Electronic Resource
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