Autoimmune polyglandular syndrome type 1-like clinical picture of hereditary hemochromatosis.
Przegl Lek. 2015;72(2):87-9.
Krysiak R, Okopień B.

Abstract
The presence of hereditary hemochromatosis, one of the most common genetic disorders in the Caucasian population, disrupting iron absorption, storage and utilization, results in tissue iron overload. Its clinical presentation is usually complex and
differs from patient to patient. In this article, the authors report a case of primary adrenal failure followed by primary hypoparathyroidism in a young male patient, describing diagnostic and treatment strategies undertaken in this patient. Our report
shows that the presence of hemochromatosis should always be taken into consideration in the differential diagnosis of autoimmune polyglandular syndrome type 1, a rare autosomal recessive disorder characterized by autoimmune multiorgan disease secondary
to mutations in the autoimmune regulator gene (AIRE), and leading to hypofunction of the adrenal cortex and parathyroid glands.

PMID: 26727750

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