Haemochromatosis in a kidney transplant recipient: a case report.

Published on May 29, 2021in BMC Nephrology1.913
· DOI :10.1186/S12882-021-02416-9
Izabela Zakrocka4
Estimated H-index: 4
(Medical University of Lublin),
Iwona Baranowicz-Gąszczyk4
Estimated H-index: 4
(Medical University of Lublin),
Wojciech Załuska18
Estimated H-index: 18
(Medical University of Lublin)
BACKGROUND Iron overload is inevitably related to chronic kidney disease (CKD) treatment. Haemochromatosis leads to multiorgan damage and is associated with increased mortality. Primary haemochromatosis is the most common autosomal recessive disease in white populations. In most cases, the classic form of hereditary haemochromatosis is caused by mutations, mainly C282Y and H63D, in the haemochromatosis gene (HFE). Secondary haemochromatosis can be triggered by iron administration and blood transfusions. Haemochromatosis is rarely reported in kidney transplant recipients. Atypical factors may evoke haemochromatosis in patients without HFE mutations or other standard risk factors. CASE PRESENTATION In the current study, we present a patient who started to have haemochromatosis symptoms after kidney transplantation. A 37-year-old man after kidney transplantation from a deceased donor was admitted to the hospital due to high serum ferritin levels and impaired graft function. The patient's past medical history included arterial hypertension, embolization of both renal arteries and necrosis of the left femoral head. Glomerulonephritis was suspected as a cause of CKD; however, severe kidney failure was diagnosed, kidney biopsy was not performed, and the patient started intermittent haemodialysis. While on dialysis to treat anaemia, the patient had received erythropoietin and iron intravenously, and the maximal serum ferritin level was 2115 ng/ml. After kidney transplantation, ferritin levels started to increase rapidly, with a maximum level of 9468 ng/ml one and a half years after surgery. His genetic study showed HFE C282Y heterozygosity. Symptoms of haemochromatosis, such as skin hyperpigmentation, elevated activity of aminotransferases, impaired glucose tolerance and heart failure, were observed. Therapeutic phlebotomy was started, and 36 procedures were performed. After treatment, graft function significantly improved, most haemochromatosis symptoms resolved, and the serum ferritin level significantly decreased. CONCLUSIONS Haemochromatosis can occur in heterozygotic HFE patients after kidney transplantation. Iron administration, infections, type of immunosuppression and liver dysfunction should be considered potential triggers of haemochromatosis in this group of patients.
INTRODUCTION Hereditary hemochromatosis is an autosomal recessive disorder of iron absorption, leading to organ dysfunction. C282Y gene homozygosity is implicated in 80%-95% of cases of hereditary hemochromatosis. The clinical penetrance of this genotype remains unclear. The purpose of the study was to better describe the clinical penetrance and disease progression of C282Y homozygotes. METHODS This is a retrospective study of all individuals in Newfoundland and Labrador, Canada, homozygous for ...
#1Anil Prabhu (John Radcliffe Hospital)H-Index: 1
#2Tamsin Cargill (John Radcliffe Hospital)H-Index: 14
Last. John Ryan (Beaumont Hospital)H-Index: 22
view all 4 authors...
Hereditary Hemochromatosis is a condition caused by defects in iron-sensing genes leading to parenchymal iron loading. If diagnosed early and treated appropriately, many of the complications, including liver fibrosis, cirrhosis and liver cancer, arthritis, cardiomyopathy and diabetes, were thought to be avoided. As iron reduction by venesection became the mainstay of HH treatment before the introduction of evidence-based medicine, its efficacy has never been the subject of high-level clinical re...
3 CitationsSource
#1Tasleem Akhtar (University of Health Sciences Lahore)H-Index: 2
#2Gibran Ali (University of Health Sciences Lahore)H-Index: 1
Last. Nadeem Sheikh (University of the Punjab)H-Index: 15
view all 3 authors...
Immunosuppressants are used clinically to lower rejection rates in transplant patients. Unfortunately, the adverse side effects of these immunosuppressants can be severe, which is one of the rationales that life expectancy of individuals after transplant still significantly falls short of that of the general population. The current experimental setup was designed to analyze the tacrolimus-induced hepatic iron overload in Wistar rats. Four experimental groups were orally given 1 ml of aqueous sus...
2 CitationsSource
#1Catherine R. Murphree (OHSU: Oregon Health & Science University)H-Index: 3
#2Nga N. Nguyen (OHSU: Oregon Health & Science University)H-Index: 2
Last. Joseph J. Shatzel (OHSU: Oregon Health & Science University)H-Index: 15
view all 6 authors...
Hereditary haemochromatosis, one of the most common genetic disorders in the United States, can produce systemic iron deposition leading to end-organ failure and death if untreated. The diagnosis of this condition can be challenging as elevated serum ferritin may be seen in a variety of conditions, including acute and chronic liver disease, a range of systemic inflammatory states, and both primary and secondary iron overload syndromes. Appropriate and timely diagnosis of haemochromatosis is para...
3 CitationsSource
#1Martha-Spyridoula Katsarou (UoA: National and Kapodistrian University of Athens)H-Index: 4
#2Maria Papasavva (UoA: National and Kapodistrian University of Athens)H-Index: 5
Last. Nikolaos Drakoulis (UoA: National and Kapodistrian University of Athens)H-Index: 22
view all 4 authors...
Abstract Hereditary Hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by an excessively increased absorption of dietary iron. Excess iron can be accumulated because of the lack of an effective excretory mechanism leading to toxic effects. HH is one of the most common genetic disorders in individuals of European descent. Genetic polymorphisms of the HFE gene (rs1800562, rs1799945 and rs1800730) also affect the normal activity of another protein, hepcidin, a negative re...
6 CitationsSource
#1Jonathan O. Cullis (Salisbury NHS Foundation Trust)H-Index: 13
Last. D. Wayne ThomasH-Index: 3
view all 5 authors...
: Serum ferritin level is one of the most commonly requested investigations in both primary and secondary care. Whilst low serum ferritin levels invariably indicate reduced iron stores, raised serum ferritin levels can be due to multiple different aetiologies, including iron overload, inflammation, liver or renal disease, malignancy, and the recently described metabolic syndrome. A key test in the further investigation of an unexpected raised serum ferritin is the serum transferrin saturation. T...
30 CitationsSource
#1Guy RostokerH-Index: 26
#2Nosratola D. Vaziri (UC: University of California)H-Index: 117
Last. Steven Fishbane (Hofstra University)H-Index: 34
view all 3 authors...
Iron overload used to be considered rare in hemodialysis patients but its clinical frequency is now increasingly realized. The liver is the main site of iron storage and the liver iron concentration (LIC) is closely correlated with total iron stores in patients with secondary hemosideroses and genetic hemochromatosis. Magnetic resonance imaging is now the gold standard method for LIC estimation and monitoring in non-renal patients. Studies of LIC in hemodialysis patients by quantitative magnetic...
34 CitationsSource
#1Mustafa YaprakH-Index: 6
#2Aygul CeltikH-Index: 8
Last. Huseyin TozH-Index: 26
view all 8 authors...
AbstractVarious reasons such as malignancies and chronic infections may cause weight loss in kidney transplant patients. In this report, iron overload as a rare cause of weight loss in a kidney transplant patient is presented. Forty-seven-year-old male patient who transplanted from a deceased donor 5 years ago was hospitalized because of 20 kg of weight loss. In medical history, he had history of hemodialysis for 89 months and received 100–300 mg of intravenous iron therapy per week before trans...
#1Tarek Bou Assi (AUB: American University of Beirut)H-Index: 5
#2Elizabeth M. Kfoury Baz (AUB: American University of Beirut)H-Index: 8
Phlebotomy, known also as bloodletting or venesection, is a major therapeutic procedure that has been performed by physicians in various civilisations since antiquity up to the present1,2. In the past it was practised using cupping, lancets or by the application of leeches2. This procedure often weakened the patient and resulted in his or her death. A famous example is that of President George Washington who died in 1799 following the removal of approximately 1.7 litres of blood during a bloodle...
16 CitationsSource
#1Lyle C. Gurrin (University of Melbourne)H-Index: 68
#2Nadine A. Bertalli (University of Melbourne)H-Index: 10
Last. Katrina J. AllenH-Index: 74
view all 17 authors...
The risk of hemochromatosis-related morbidity is unknown among HFE compound heterozygotes (C282Y/H63D). We used a prospective population-based cohort study to estimate the prevalence of elevated iron indices and hemochromatosis-related morbidity for compound heterozygotes. In all, 31,192 subjects of northern European descent were genotyped for HFE C282Y and H63D. An HFE-genotype stratified random sample of 1,438 subjects, followed for an average of 12 years to a mean age of 65 years, completed q...
109 CitationsSource
Cited By0