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Hereditary Congenital Methemoglobinemia Diagnosed at the Age of 79 Years: A Case Report

Nakata, Marohito Yokota, Naoko Tabata, Kazuhiko Morikawa, Takuya Shibata, Hiroki Kenzaka, Tsuneaki 神戸大学

2023.03

概要

Background: Cardiopulmonary disorders are the most common cause of central cyanosis, and methemoglobinemia is often overlooked in the differential diagnosis of patients with central cyanosis. In most cases, methemoglobinemia is acquired and hereditary congenital methemoglobinemia is rare. Only a few case reports of congenital methemoglobinemia can be found in PubMed. To date, only four cases of congenital methemoglobinemia diagnosed after the age of 50 years have been reported. Case Presentation: A 79-year-old Japanese woman presented at our hospital with the chief complaints of dyspnea and cyanosis. She exhibited cyanosis of the lips and extremities, and her SpO₂ was 80%, with oxygen administration at 5 L/min. Blood gas analysis revealed a PaO₂ of 325.4 mmHg and methemoglobin level of 36.9%. The SpO₂ and PaO₂ values were dissociated, and methemoglobin levels were markedly elevated. Genetic analysis revealed a nonsynonymous variant in the gene encoding nicotinamide adenine dinucleotide cytochrome (NADH) B5 reductase 3 (CYB5R3), and the patient was diagnosed with congenital methemoglobinemia. Conclusions: It is important to consider methemoglobinemia in the differential diagnosis of patients with central cyanosis. At 79 years of age, our patient represents the oldest patient with this diagnosis. This report indicates that it is crucial to consider the possibility of methemoglobinemia regardless of the patient’s age.

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参考文献

1.

2.

3.

4.

5.

6.

7.

8.

9.

10.

11.

12.

13.

Katsube, T.; Sakamoto, N.; Kobayashi, Y.; Seki, R.; Hirano, M.; Tanishima, K.; Tomoda, A.; Takazakura, E.; Yubisui, T.; Takeshita,

M. Exonic Point Mutations in NADH-Cytochrome B5 Reductase Genes of Homozygotes for Hereditary Methemoglobinemia,

Types I and III: Putative Mechanisms of Tissue-Dependent Enzyme Deficiency. Am. J. Hum. Genet. 1991, 48, 799–808. [PubMed]

Shirabe, K.; Yubisui, T.; Borgese, N.; Tang, C.Y.; Hultquist, D.E.; Takeshita, M. Enzymatic Instability of NADH-Cytochrome b5

Reductase as a Cause of Hereditary Methemoglobinemia Type I (Red Cell Type). J. Biol. Chem. 1992, 267, 20416–20421. [CrossRef]

[PubMed]

Hall, R.; Yuan, S.; Wood, K.; Katona, M.; Straub, A.C. Cytochrome b5 Reductases: Redox Regulators of Cell Homeostasis. J. Biol.

Chem. 2022, 298, 102654. [CrossRef] [PubMed]

Ullah, A.; Shah, A.A.; Syed, F.; Mahmood, A.; Ur Rehman, H.; Khurshid, B.; Samad, A.; Ahmad, W.; Basit, S. Molecular Dynamic

Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia. Medicina 2023, 59, 379.

[CrossRef] [PubMed]

Soliman, D.S.; Yassin, M. Congenital Methemoglobinemia Misdiagnosed as Polycythemia Vera: Case Report and Review of

Literature. Hematol. Rep. 2018, 10, 7221. [CrossRef] [PubMed]

Alotaibi, A.T.; Alhowaish, A.A.; Alshahrani, A.; Alfaraj, D. Congenital Methemoglobinemia-Induced Cyanosis in Assault Victim.

Cureus 2021, 13, e14079. [CrossRef] [PubMed]

Izadi Firouzabadi, L.I.; Mead, P. Congenital Methaemoglobinaemia Presenting in a 55-Year-Old Man. BMJ Case Rep. 2020, 13,

e236677. [CrossRef] [PubMed]

Wang, Y.; Wu, Y.S.; Zheng, P.Z.; Yang, W.X.; Fang, G.A.; Tang, Y.C.; Xie, F.; Lan, F.H.; Zhu, Z.Y. A Novel Mutation in the

NADH-Cytochrome b5 Reductase Gene of a Chinese Patient with Recessive Congenital Methemoglobinemia. Blood 2000, 95,

3250–3255. [CrossRef] [PubMed]

Champigneulle, B.; Lecorre, M.; Bouzguenda, H.; Lemaire, S.; Ethuin, F.; Deleuze, P.; Rouquette, I.; Bouhemad, B. Late Diagnosis

of Congenital Methemoglobinemia in an Elderly Patient During Cardiac Surgery. J. Cardiothorac. Vasc. Anesth. 2014, 28, 730–732.

[CrossRef] [PubMed]

Hurford, W.E.; Kratz, A. Case Records of the Massachusetts General Hospital. Weekly Clinicopathological Exercises. Case 23-2004.

A 50-Year-Old Woman with Low Oxygen Saturation. N. Engl. J. Med. 2004, 351, 380–387. [CrossRef] [PubMed]

Alexander, C.M.; Teller, L.E.; Gross, J.B. Principles of Pulse Oximetry: Theoretical and Practical Considerations. Anesth. Analg.

1989, 68, 368–376. [CrossRef] [PubMed]

Prchal, J.T. Methemoglobinemia. In UpToDate® ; Post, T.W., Burns, M.M., Burns, M.M., Tirnauer, J.S., Eds.; Wolters Kluwer: Alphen

aan den Rijn, The Netherlands, 2022. Available online: https://www.uptodate.com/contents/methemoglobinemia?search=

Methemoglobinemia&source=search_result&selectedTitle=1~150&usage_type=default&display_rank=1 (accessed on 11 March

2023).

Burtseva, T.; Ammosova, T.; Prchal, J.T.; Chasnyk, V.; Nekhai, S.; Gordeuk, V.R. Type I Methemoglobinemia Caused by the

Cytochrome b5 Reductase 806C>T Mutation Is Present in the Indigenous Evenk People of Yakutia. Blood 2009, 114, 2588.

[CrossRef]

Medicina 2023, 59, 615

14.

15.

16.

17.

9 of 9

Scott, E.M.; Hoskins, D.D. Hereditary Methemoglobinemia in Alaskan Eskimos and Indians. Blood 1958, 13, 795–802. [CrossRef]

[PubMed]

Scott, E.M. The Relation of Diaphorase of Human Erythrocytes to Inheritance of Methemoglobinemia. J. Clin. Investig. 1960, 39,

1176–1179. [CrossRef] [PubMed]

Kiyama, T.; Tokeshi, H.; Kusumoto, Y.; Takekuma, Y.; Uchida, M. Studies on the Congenital Methemoglobinemia in Okinawa

Islands. 3. Mass Survey on Henza and Miyagi Islands. Kumamoto Med. J. 1973, 26, 57–62. [PubMed]

Kawakita, Y.; Tokeshi, H.; Miyake, T.; Fukutomi, J.; Dekita, K. Studies on the Congenital Methemoglobinemia in Okinawa Island.

II. Diaphorase Activity. Kumamoto Med. J. 1966, 19, 211–219. [PubMed]

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