Almost all Russian children were diagnosed in Moscow - at the Scientific Center of Children's Health and the Russian Children's Clinical Hospital. Diseases "tyrosinemia" is so rare that sometimes doctors from the regions did not even know about the existence of such a disease.
Before you come to this diagnosis, many children were delivered various erroneous diagnoses: sepsis, immunodeficiency, herpes, hepatitis, cryptogenic hepatitis, enterocolitis.
Acute hereditary tyrosinemia type 1 usually develops before the age of 6 months. (Debut 2-4 months) and it is the most severe and life threatening. Without immediate specialized treatment of patients with acute HT1 die within a few weeks after the onset of the disease.
The cause of death often become acute liver failure and catastrophic bleeding on her background.
Suspected acute form HT1 possible by the presence of:
Х acute liver failure with hepatomegaly at normal or moderately elevated transaminase and bilirubin values ??(in equal proportions of direct and indirect bilirubin);
Х coagulopathy (hemorrhagic syndrome, very low levels of hepatic blood-coagulation factors (II, VII, IX, XII), lengthening of aPTT> 50 c, and PTV> 14 is not amenable to correction of vitamin K);
Х signs of renal tubular acidosis;
Х in combination with non-specific symptoms: fever, sepsis, more resistant to antibiotic therapy, diarrhea or dynamic obstruction, dyspepsia.
To reduce the time to diagnosis in cases of suspected HT1 recommended to do a blood test for alpha-fetoprotein (AFP).
If AFP> 10 times the norm in combination with known coagulopathy probability HT1 extremely high!
If the value of the AFP> 10 times the norm recommended:
1) Before the transfusion of blood components and to take a blood sample by a dry spot to confirm the diagnosis HT1
2) Send the sample for analysis and TMS suktsinilatseton.
3) Transfer the patient to a low-protein diet or a dedicated power supply without tyrosine and phenylalanine.
Until 1992, the only radical treatment of hereditary tyrosinemia type 1 type had a liver transplant, which covered only 10% of children with complicated post-operative mortality rate of 10-20%.
Even with a successful transplant progression of kidney damage is not stopped, life-long immunosuppressive therapy required. Reducing protein-free diet is only slowed progression of the disease and allowed to survive until transplantation.
Until 2013 in Russia there was no medical standard of care tyrosinemia.
The main purpose of therapy is in the low protein (ie nizkotirozinovoy, nizkofenilalaninovoy) diet, which leads to a decrease in kidney damage, but the impact of diet on the liver less defined.
With the progression of the disease is a liver transplant patients. However, in most cases, the progression of the disease in children with type 1 tyrosinemia control diet alone fails. In 1992, the drug was invented - nitizinon (orfadin), which blocks the degradation of tyrosine before it starts to produce harmful substances that destroy the function of internal organs.
Therefore, to date, the use of nitizinona (Orfadina) sieve effective treatment. Acute hepatic and neurological crises crises do not occur in patients being treated nitizinonom. Nitizinon (orfadin) will have to make life and daily.
Besides, with the increase in the weight of the child, will increase and dosage. Also nitizinona need to take specialized medical mixture - a mixture of amino acids without tyrosine and fenialanina. No special food the child will not gain weight and develop physically and intellectually.