Long-term phlebotomy successfully alleviated hepatic iron accumulation in a ferroportin disease patient with a mutation in SLC40A1 : a case report
BACKGROUND: Hereditary hemochromatosis is a heterogenous group of inherited iron-overload conditions that is characterized by increased intestinal absorption and deposition in vital organs. Hepcidin is a soluble regulator that acts to attenuate both intestinal iron absorption and iron release from reticuloendothelial macrophages through internalization of ferroportin-1, an iron exporter. Ferroportin disease is hereditary hemochromatosis which is affected by SLC40A1, a gene coding ferroportin-1, and phenotypically classified into two forms (classical and nonclassical). In nonclassical form, ferroportin mutations are responsible for a gain of function with full iron export capability but insensitivity to downregulation by hepcidin. Here, we report a case of nonclassical ferroportin disease.
CASE PRESENTATION: A 46-year-old Japanese man showed elevated serum iron (284 μg/dl), ferritin (1722 ng/ml), transferrin saturation ratio (91.3%), and hepcidin-25 level (139.6 ng/ml). Magnetic resonance imaging (MRI) demonstrated a marked reduction in the signal intensity of the liver in T1- and T2-weighted images. The liver histology exhibited a large amount of iron that had accumulated predominantly in hepatocytes. We identified a heterozygous 1520A > G (p.H507R) mutation in the SLC40A1 gene. Phlebotomy (400 ml at a time) was monthly performed for 3 years in this patient. Importantly, the serum hepcidin level (1.0 ng/ml) was normal when the serum ferritin level was normal and hepatic iron accumulation was remarkably reduced after 3 years of phlebotomy.
CONCLUSIONS: The present case demonstrated for the first time that there was a correlation between hepatic iron levels as measured by MRI and serum hepcidin levels through long-term phlebotomy in a patient with ferroportin disease with the p.H507R mutation of in SLC40A1.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:21 |
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| Enthalten in: |
BMC gastroenterology - 21(2021), 1 vom: 05. März, Seite 111 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Nishina, Sohji [VerfasserIn] |
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| Links: |
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| Themen: |
Case Reports |
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| Anmerkungen: |
Date Completed 14.05.2021 Date Revised 31.05.2022 published: Electronic Citation Status MEDLINE |
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| doi: |
10.1186/s12876-021-01674-z |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM322310857 |
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| 100 | 1 | |a Nishina, Sohji |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Long-term phlebotomy successfully alleviated hepatic iron accumulation in a ferroportin disease patient with a mutation in SLC40A1 |b a case report |
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| 500 | |a Citation Status MEDLINE | ||
| 520 | |a BACKGROUND: Hereditary hemochromatosis is a heterogenous group of inherited iron-overload conditions that is characterized by increased intestinal absorption and deposition in vital organs. Hepcidin is a soluble regulator that acts to attenuate both intestinal iron absorption and iron release from reticuloendothelial macrophages through internalization of ferroportin-1, an iron exporter. Ferroportin disease is hereditary hemochromatosis which is affected by SLC40A1, a gene coding ferroportin-1, and phenotypically classified into two forms (classical and nonclassical). In nonclassical form, ferroportin mutations are responsible for a gain of function with full iron export capability but insensitivity to downregulation by hepcidin. Here, we report a case of nonclassical ferroportin disease | ||
| 520 | |a CASE PRESENTATION: A 46-year-old Japanese man showed elevated serum iron (284 μg/dl), ferritin (1722 ng/ml), transferrin saturation ratio (91.3%), and hepcidin-25 level (139.6 ng/ml). Magnetic resonance imaging (MRI) demonstrated a marked reduction in the signal intensity of the liver in T1- and T2-weighted images. The liver histology exhibited a large amount of iron that had accumulated predominantly in hepatocytes. We identified a heterozygous 1520A > G (p.H507R) mutation in the SLC40A1 gene. Phlebotomy (400 ml at a time) was monthly performed for 3 years in this patient. Importantly, the serum hepcidin level (1.0 ng/ml) was normal when the serum ferritin level was normal and hepatic iron accumulation was remarkably reduced after 3 years of phlebotomy | ||
| 520 | |a CONCLUSIONS: The present case demonstrated for the first time that there was a correlation between hepatic iron levels as measured by MRI and serum hepcidin levels through long-term phlebotomy in a patient with ferroportin disease with the p.H507R mutation of in SLC40A1 | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Ferritin | |
| 650 | 4 | |a Hepcidin | |
| 650 | 4 | |a Hereditary hemochromatosis | |
| 650 | 4 | |a Nonclassical ferroportin disease | |
| 650 | 7 | |a Cation Transport Proteins |2 NLM | |
| 650 | 7 | |a metal transporting protein 1 |2 NLM | |
| 650 | 7 | |a Iron |2 NLM | |
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| 700 | 1 | |a Tomiyama, Yasuyuki |e verfasserin |4 aut | |
| 700 | 1 | |a Ikuta, Katsuya |e verfasserin |4 aut | |
| 700 | 1 | |a Tatsumi, Yasuaki |e verfasserin |4 aut | |
| 700 | 1 | |a Toki, Yasumichi |e verfasserin |4 aut | |
| 700 | 1 | |a Kato, Ayako |e verfasserin |4 aut | |
| 700 | 1 | |a Kato, Koichi |e verfasserin |4 aut | |
| 700 | 1 | |a Yoshioka, Naoko |e verfasserin |4 aut | |
| 700 | 1 | |a Sasaki, Kyo |e verfasserin |4 aut | |
| 700 | 1 | |a Hara, Yuichi |e verfasserin |4 aut | |
| 700 | 1 | |a Hino, Keisuke |e verfasserin |4 aut | |
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