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Erythropoietic porphyrias Congenital erythropoietic porphyria (Gunther disease) Epidemiology Very rare Severe Etiology Autosomal recessive Defective uroporphyrinogen-III synthase Pathophysiology Begins in childhood Bone marrow heme biosynthesis impairment Clinical features Severe photosensitivity leads to light-induced damage burning sensation and redness of the skin with blisters that can develop into ulcers scarring, sometimes severe: Scarring of the cornea (blindness) Loss of fingers Loss of facial features Hemolytic anemia: enzyme dysfunction reduces heme levels and accumulated intermediates disrupt the membrane of erythrocytes and their precursors hypersplenism Bone changes Bone marrow hypertrophy pathologic fractures Acral osteolysis Red stained bones Port-wine colored urine Management No causal therapy Avoid exposure to sunlight Erythropoietic protoporphyria Epidemiology: third most common porphyria Genetics: autosomal dominant (defective ferrochelatase) Clinical features After exposure to sunlight: transient cutaneous findings Protoporphyrin gallstones Rare: chronic hepatic involvement Diagnostics: protoporphyrin in feces and blood Management Protection from sunlight, alpha-MSH Ursodeoxycholic acid, cholestyramine Liver/bone marrow transplantation

447 It was found that higher level of NAMPT in serum in women is correlated with a much lower hepatic de novo lipogenesis (DNL) index, although they do not correlate with the DNL index, but had a correlation with a higher hepatic fat in men, implying a sex-dependent interpretation role of serum NAMPT level for NAFLD prognosis

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135 For example, alcohol may affect allergic sensitization and total levels of IgE, as well as lymphocyte subsets that drive a Th1/Th2 cytokine imbalance

Chemotaxis The characteristic movement of a cell along a chemical concentration gradient formed by a chemokine or other chemotactic substance