Kriglera-Nayar's syndrome

Description:

Kriglera-Nayar's syndrome (Xing.: the inborn family hyperbilirubinemia of babies, an inborn not hemolitic hyperbilirubinemia with a kernicterus) is called by name the American pediatricians of J.F. Crigier and V. A. Najyar).

Reasons of the Syndrome of Kriglera-Nayar:

At this disease bilirubin conjugation process is broken. Inborn defect of a glyukuroniltransferaza — the enzyme providing conjugation of an indirect bilirubin is the cornerstone. The specified defect hereditary, a mode of inheritance - autosomal and recessive.
Allocate two types of this disease.
The 1st type is characterized by lack of a gltokuroniltranferaza. Thereof concentration of an indirect bilirubin in the first days after the birth reaches the sizes exceeding 300 — 400 and more than a µmol/l. Treatment unsuccessfully.
At the 2nd type activity of enzyme is reduced, but it is present. Giperbillirubinemiya is high. Treatment is possible.

Symptoms of the Syndrome of Kriglera-Nayar:

Characteristic symptoms:
■ jaundice;
■ syndrome of neurologic disturbances.
Jaundice is usually noted since the birth and quickly accrues. Lack of increase in a liver allows to exclude its parenchymatous and mechanical character. Decrease in hemoglobin and number of erythrocytes is not observed that testifies to lack of hemolysis. At this type of a disease patients perish in the first weeks, is more rare — months of life. At the 2nd type the neurologic symptomatology attracts attention, along with jaundice. So-called "kernicterus" develops — are painted over by yellow color basal a ganglion and a hypocampus. The loss of appetite, excitement, decrease in reflexes, drowsiness happen the first symptoms. Within several hours the state progressively worsens. There is a generalized muscular hypertension, the child lies with the head which is thrown back back, the lower extremities are strained and crossed. Are noted a symptom "setting the sun", spasms. Further the spastic cerebral palsy, a sharp arrest of development, a hearing loss in the field of high-pitch tones form,
In biochemical analysis of blood the hyperbilirubinemia at the expense of indirect fraction is defined. The share of direct fraction of bilirubin is insignificant. At development of intercurrent diseases (a SARS, etc.) bilirubin level sharply increases, as well as jaundice. There are no deviations in functional indicators of a liver.
This disease — one of the heaviest hyperbilirubinemias of the period of a neonatality and the first months of life. The effect of the most vigorous medical actions is temporary and demands their constant repetition. It is, perhaps, the most important diagnostic criterion of this disease. It is easy to establish the pairing nature of a disease: there are no signs of hemolysis and damage of a liver.
There is no verifying diagnostic procedure. As defect is not removable, the patient needs continuous therapy that can be considered as "decisive diagnostic reception".

Treatment of the Syndrome of Kriglera-Nayar:

Phenobarbital or зиксорин, photo and infusional therapy. At increase of an indirect bilirubin it is higher than 250 - 270 µmol/l —  zamenny hemotransfusion.