Hemochromatosis-Induced Chronic Kidney Disease

Hemochromatosis is a (mostly) genetic disorder characterized by an abnormal increase in iron absorption from the diet, leading to iron overload in various organs including the liver, heart, pancreas, and kidneys[1].

Kidney damage and dysfunction results from excessive iron accumulation. In hemochromatosis, excess iron is deposited in the kidney glomeruli and distal tubules, resulting in progressive damage and kidney dysfunction[2].

Several mechanisms contribute to kidney injury, including inflammation, oxidative stress, and fibrosis[3]. The accumulation of iron in the kidney tubules can also impair their function, resulting in inadequate reabsorption and secretion processes, leading to electrolyte imbalances such as hypokalemia, hypomagnesemia, and hyperphosphatemia. It may also cause impaired acid-base balance, which leads to metabolic acidosis.

Excessive iron deposition in the renal parenchyma may cause nephrocalcinosis. Consequently, kidney function may be impaired, resulting in kidney stones. Chronic iron overload in the kidneys triggers fibrotic changes, leading to progressive kidney damage and eventually end-stage renal disease. Hemochromatosis renal manifestations can vary from mild abnormalities in kidney function to more severe conditions such as end-stage renal disease.

Hemochromatosis can therefore lead to Chronic Kidney Disease (CKD) due to excess iron accumulation in the kidneys, causing progressive damage through inflammation, oxidative stress, and fibrosis.

What could be the first symptom you might find if you're afflicted with Hemochromatosis? Possibly melanoderma (darkening or 'bronzing' of the skin), especially of your hands. Which also explaines the name of this disease: From hemo- ('blood') + chromat- ('colour') + -osis ('abnormal condition'). It describes the changing colour of blood affected by the disorder.

We propose to call this Chronic Kidney Disease of non-Traditional causes (CKDnT): Hemochromatosis-Induced Chronic Kidney Disease.

[1] Piperno et al: Inherited iron overload disorders in Translational Gastroenterology and Hepatology - 2020
[2] Ozkurt et al: Renal hemosiderosis and rapidly progressive glomerulonephritis associated with primary hemochromatosis in Renal Failure - 2014
[3] Lv et al: Oxidative Stress and Renal Fibrosis: Recent Insights for the Development of Novel Therapeutic Strategies in Frontiers in Frontiers in Physiology - 2018