ето вторичный еритроцитоз - нужно исключать сосудистые шунты, гипоксию и др. причины - не уверен что в Иошкар-Оле такое возможно;
из общеклинических
A careful physical examination and non-invasive procedures,
abdominal ultrasound, pulse oximetry, and pulmonary function
tests should be performed before or in parallel to the first blood
analysis. At this stage, splenomegaly, and/or additional changes of
the complete blood count as thrombocytosis or leukocytosis may
indicate PV necessitating prompt targeted further investigation. The
initial blood tests should include a blood gas analysis to exclude
hypoxia and to calculate the p50 (oxygen tension at which
hemoglobin is 50% saturated), liver and renal parameters to exclude
severe disorders of these organs which can be associated with
erythrocytosis,
У ребенка эритропоэтин в норме, но он может быть относительно высок для полицитемии
Significantly increased serum Epo indicates secondary erythrocytosis.
It may be caused by a physiologic
response to hypoxia due to cardiac, pulmonary, renal, or hepatic
disorders (i.e., acquired secondary erythrocytosis) or in congenital
secondary erythrocytosis with high oxygen-affinity hemoglobin
variants. Increased Epo is found in most cases with congenital
erythrocytosis due to genetic defects leading to a dysregulation of
oxygen-dependent Epo synthesis, that is, familial erythrocytosis
types ECYT2 to ECYT4 (VHL-, PHD2 (EGLN1)-, HIF2a(EPAS1)-
related erythrocytosis) [2,15]. Some patients with one of these
disorders may present Epo levels within the normal range which
nevertheless are inappropriately high for raised hemoglobin and
hematocrit levels.
В Самаре вроде как имеется научая группа по чувашской полицитемии, может у них есть данные какие в РФ исключают мутации кроме чувашской как причину еритроцитоза
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