КЛІНІЧНІ ФЕНОТИПИ ВИСОКОГО РИЗИКУ НАЯВНОСТІ ПЕРВИННИХ МІТОХОНДРІАЛЬНИХ ЦИТОПАТІЙ (частина 2)

The study focuses on primary mitochondrial cytopathies (PMCs), which are often associated with mtDNA defects and manifest in various clinical phenotypes affecting multiple systems. The research analyzed 121 scientific works and identified that over 10% of patients with PMC exhibit dermatological signs, including hair growth and structure anomalies. Common endocrine system manifestations include diabetes, growth hormone deficiency, and hypothyroidism. Vision impairments such as cataracts and optic nerve atrophy are prevalent, alongside hematological issues like anemia and neutropenia. Elevated lactate levels in PMC patients can lead to severe multisystemic symptoms and metabolic shock. The study emphasizes the need for differential diagnosis of chronic metabolic diseases with PMC.