Autopsy relevance determining hemochromatosis

Abstract

Rationale:Hemochromatosis is a disorder, associated with an abnormal accumulation of iron leading to toxic organ damage. Clinical symptoms develop during a long period of time, thus, determining accidental or late diagnosis, usually when complications are evident.Patient concerns:A 53-year-old man was brought to the emergency unit with symptoms of hypovolemic shock without any apparent cause, which ultimately led to multiple organ failure, severe metabolic acidosis.Diagnoses:The final diagnosis of hemochromatosis was determined after the autopsy.Interventions:Abnormal findings included a black-grayish pancreas, without any surrounding tissue reaction, and a dilated congestive cardiomyopathy. Histological findings revealed significant hemosiderin deposits in the internal organs, which were more distinct in the pancreas, liver, and kidneys.Outcomes:Patient death in less than 12 hours.Lessons:The necessity of a genetic examination after the autopsy, regarding this case was undeniable, especially focusing on the first-degree relatives, helping to diagnose and prescribe an adequate and early treatment.

Iron uptake by ZIP8 and ZIP14 in human proximal tubular epithelial cells

“…However, in recent years, kidney function abnormalities have been arising in patients with β-thalassemia major (Bhandari and Galanello 2012 ), including increased urinary excretion of N -acetyl- d -glucosaminidase (NAG) and β-2-microglobulin, indicators of renal proximal tubular damage (Aldudak et al 2000 ; Hashemieh et al 2017 ; Koliakos et al 2003 ; Mohkam et al 2008 ; Smolkin et al 2008 ; Sumboonnanonda et al 1998 ). Also, renal iron deposition has been observed in adult patients with hereditary hemochromatosis (Chmieliauskas et al 2017 ; Marble and Bailey 1951 ; Okumura et al 2002 ; Ozkurt et al 2014 ; Rous 1918 ) or β-thalassemia syndromes (Hashemieh et al 2017 ; Landing et al 1989 ; Ong-ajyooth et al 1998 ). In vitro studies have shown that iron exposure can result in decreased cellular viability in murine and human renal tubular epithelial cells (Sheerin et al 1999 ; Sponsel et al 1996 ; Zager and Burkhart 1997 ).…”

Clinical and Forensic Signs Resulting from Exposure to Heavy Metals and Other Chemical Elements of the Periodic Table

“… Skin hyperpigmentation—bronze coloration ( A ), a black-greyish, rigid pancreas ( B ). Reprinted from ( A )—[ 313 ] and ( B )—[ 314 ]. …”

“…In advanced stages of the disorder, the dysfunction and tissue injury leads to diabetes mellitus, cirrhosis, congestive heart failure, cardiac arrhythmia, and liver cancer [312]. Reprinted from (A)- [313] and (B)- [314].…”

First case of hemochromatosis in a sugar glider (<i>Petaurus breviceps</i>)

“…Hemochromatosis in humans is classified into HH and SH, but there is no classification in animals. HH occurs due to the mutation of the HFE gene coding HFE protein, which has an important role for regulating iron homeostasis [6,13,16]. SH occurs secondary to hemolytic anemia, disorders of erythropoiesis, multiple blood transfusions, and excessive intake of iron [6].…”

“…HH occurs due to the mutation of the HFE gene coding HFE protein, which has an important role for regulating iron homeostasis [6,13,16]. SH occurs secondary to hemolytic anemia, disorders of erythropoiesis, multiple blood transfusions, and excessive intake of iron [6]. Although the mutation of the HFE gene has been identified in rhinoceroses and cattle, the relationship between the mutation and the development of hemochromatosis has not been proven in animals [14,20,21].…”