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Nadir bir Hipoksemi Sebebi; Herediter Methemoglobinemi

Yıl 2021, Cilt 11, Sayı 6, 924 - 926, 20.11.2021
https://doi.org/10.16899/jcm.946473

Öz

Herediter Methemoglobinemi hpokseminin nadir sebeplerinden biridir. CYB5R3 geninde oluşan mutasyonlar otozomal resesif herediter methemoglobinemiye neden olur. Çoğunlukla nefes darlığı, morarma, halsizlik gibi semptomlar görülebilir. Bazen erişkin yaşa kadar semptom vermeyebilir. Onsekiz yaşında ellerinde ve dudaklarında zaman zaman tekrarlayan morluk, nefes darlığı, çarpıntısı olan olgumuzun, oksijen satürasyonu (Sa02) %85 saptandı. Methemoglobin (Methb) düzeyi %20 (N;0-1.5) idi. Dispne ve siyanozu açıklayacak kardiyak ve pulmoner neden saptanmayan olguda satürasyonu düşüklüğü ve methb yüksekliği nedeniyle methemoglobinemi düşünülerek, yüksek doz ıntravenöz askorbik asit verildi. Satürasyonu yükselen ve methb düzeyi tedricen düşen hastanın takiplerinde genetik testler sonucunda CYB5R3 geni sekans analizi ile homozigot missense c.136C>T (p.R46W) mutasyonu saptandı. Hasta otozomal resesif herediter methemoglobinemi tip 1 olarak kabul edildi. Pulmoner ve kardiyovasküler nedenlerle açıklanamayan nefes darlığı, hipoksi, siyanoz birlikteliğinde nadir görülen herediter methemoglobineminin akla gelmesi gerektiğini vurgulamak için bu vakamızı sunuyoruz.

Kaynakça

  • 1. Fermo E, Bianchi P, Vercellati C, Marcello AP, Garatti M, Marangoni O, Barcellini W, Zanella A. Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene. Blood Cells Mol Dis. 2008 Jul-Aug;41(1):50-5. doi: 10.1016/j.bcmd.2008.02.002. Epub 2008 Mar 17. PMID: 18343696.
  • 2. Mansouri A, Lurie AA. Concise review: methemoglobinemia. Am J Hematol. 1993 Jan;42(1):7-12. doi: 10.1002/ajh.2830420104. PMID: 8416301.
  • 3. Fisher, R.A., et al., Assignment of the DIA1 locus to chromosome 22. Ann Hum Genet, 1977. 41(2): p. 151-5.
  • 4. Gupta, V., et al., Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia. Hum Mutat, 2020. 41(4): p. 737-748.
  • 5. Tomatsu, S., et al., The organization and the complete nucleotide sequence of the human NADH-cytochrome b5 reductase gene. Gene, 1989. 80(2): p. 353-61.
  • 6. Katsube, T., et al., 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(4): p. 799-808.
  • 7. Rehman, H.U., Methemoglobinemia. West J Med, 2001. 175(3): p. 193-6.
  • 8. Lorenzo, F.R.t., et al., Molecular basis of two novel mutations found in type I methemoglobinemia. Blood Cells Mol Dis, 2011. 46(4): p. 277-81.
  • 9. Hudspeth, M.P., S. Joseph, and K.R. Holden, A novel mutation in type II methemoglobinemia. J Child Neurol, 2010. 25(1): p. 91-3.
  • 10.Warang, P.P., et al., Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India. Clin Genet, 2015. 87(1): p. 62-7.
  • 11. Arikoglu, T., et al., A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia. Pediatr Hematol Oncol, 2009. 26(5): p. 381-5.
  • 12. Jaffé ER. Enzymopenic hereditary methemoglobinemia: a clinical/biochemical classification. Blood Cells. 1986;12(1):81-90. PMID: 3539237.
  • 13. Kaplan JC, Lostanlen D, Gacon G, Leroux A. La réduction enzymatique de la méthémoglobine [Enzymatic reduction of methemoglobin]. Expos Annu Biochim Med. 1980;34:81-94. French. PMID: 7009206.
  • 14. Takeshita M, Tamura M, Kugi M, et al. Decrease of palmitoyl-CoA elongation in platelets and leukocytes in the patient of hereditary methemoglobinemia associated with mental retardation. Biochem Biophys Res Commun 1987; 148:384.
  • 15. Svecová D, Böhmer D. Congenital and acquired methemoglobinemia and its therapy. Cas Lek Cesk 1998; 137:168-70.

A Rare Cause of Hypoxemia: Hereditary Methemoglobinemia

Yıl 2021, Cilt 11, Sayı 6, 924 - 926, 20.11.2021
https://doi.org/10.16899/jcm.946473

Öz

Hereditary methemoglobinemia is one of the rare causes of hypoxemia. Mutations in the CYB5R3 gene cause autosomal recessive hereditary methemoglobinemia. Mostly, symptoms such as shortness of breath, bruise and and fatique occur. It may not display any symptoms until adult ages. Our case was at the age of 18 and had sometimes recurring bruise in hands and lips, shortness of breath, palpitations and oxygen saturation (SaO2) was 85%. Methemoglobin (Methb) level was %20 (N;0-1.5) No cardiac or pulmonary cause could be detected, which could account for dyspnea and cyanosis, and due to low saturation and high Methb. levels, metheglobinemia was considered and high dose IV ascorbic acid was administered. In follow up period, saturation increased and Methb. level gradually decreased and with genetic tests, homozygous missense c.136C> T (p.R46W) mutation was detected with CYB5R3 gene sequence analysis. Patient was diagnosed with autosomal recessive hereditary methemoglobinemia type 1. This case is presented ın order to emphasize that hereditary methemoglobinemia should be kept in mind when shortness of breath, hypoxia and cyanosis, occur together and can not be attributed to pulmonary and cardiovascular causes.

Kaynakça

  • 1. Fermo E, Bianchi P, Vercellati C, Marcello AP, Garatti M, Marangoni O, Barcellini W, Zanella A. Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene. Blood Cells Mol Dis. 2008 Jul-Aug;41(1):50-5. doi: 10.1016/j.bcmd.2008.02.002. Epub 2008 Mar 17. PMID: 18343696.
  • 2. Mansouri A, Lurie AA. Concise review: methemoglobinemia. Am J Hematol. 1993 Jan;42(1):7-12. doi: 10.1002/ajh.2830420104. PMID: 8416301.
  • 3. Fisher, R.A., et al., Assignment of the DIA1 locus to chromosome 22. Ann Hum Genet, 1977. 41(2): p. 151-5.
  • 4. Gupta, V., et al., Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia. Hum Mutat, 2020. 41(4): p. 737-748.
  • 5. Tomatsu, S., et al., The organization and the complete nucleotide sequence of the human NADH-cytochrome b5 reductase gene. Gene, 1989. 80(2): p. 353-61.
  • 6. Katsube, T., et al., 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(4): p. 799-808.
  • 7. Rehman, H.U., Methemoglobinemia. West J Med, 2001. 175(3): p. 193-6.
  • 8. Lorenzo, F.R.t., et al., Molecular basis of two novel mutations found in type I methemoglobinemia. Blood Cells Mol Dis, 2011. 46(4): p. 277-81.
  • 9. Hudspeth, M.P., S. Joseph, and K.R. Holden, A novel mutation in type II methemoglobinemia. J Child Neurol, 2010. 25(1): p. 91-3.
  • 10.Warang, P.P., et al., Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India. Clin Genet, 2015. 87(1): p. 62-7.
  • 11. Arikoglu, T., et al., A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia. Pediatr Hematol Oncol, 2009. 26(5): p. 381-5.
  • 12. Jaffé ER. Enzymopenic hereditary methemoglobinemia: a clinical/biochemical classification. Blood Cells. 1986;12(1):81-90. PMID: 3539237.
  • 13. Kaplan JC, Lostanlen D, Gacon G, Leroux A. La réduction enzymatique de la méthémoglobine [Enzymatic reduction of methemoglobin]. Expos Annu Biochim Med. 1980;34:81-94. French. PMID: 7009206.
  • 14. Takeshita M, Tamura M, Kugi M, et al. Decrease of palmitoyl-CoA elongation in platelets and leukocytes in the patient of hereditary methemoglobinemia associated with mental retardation. Biochem Biophys Res Commun 1987; 148:384.
  • 15. Svecová D, Böhmer D. Congenital and acquired methemoglobinemia and its therapy. Cas Lek Cesk 1998; 137:168-70.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Bilimleri ve Hizmetleri
Bölüm Olgu Sunumu
Yazarlar

Dilek ERGÜN (Sorumlu Yazar)
SELÇUK ÜNİVERSİTESİ, TIP FAKÜLTESİ
0000-0002-9890-2250
Türkiye


Ecem NARİN Bu kişi benim
SELÇUK ÜNİVERSİTESİ, TIP FAKÜLTESİ
0000-0002-6921-0386
Türkiye


Recai ERGÜN
SELÇUK ÜNİVERSİTESİ, TIP FAKÜLTESİ
0000-0002-6702-9188
Türkiye


Fikret KANAT Bu kişi benim
SELÇUK ÜNİVERSİTESİ, TIP FAKÜLTESİ
0000-0002-1912-0200
Türkiye


Büşra GÖKSEL Bu kişi benim
SELÇUK ÜNİVERSİTESİ, TIP FAKÜLTESİ
0000-0001-5457-8711
Türkiye

Destekleyen Kurum --
Proje Numarası --
Teşekkür --
Yayımlanma Tarihi 20 Kasım 2021
Kabul Tarihi 11 Temmuz 2021
Yayınlandığı Sayı Yıl 2021, Cilt 11, Sayı 6

Kaynak Göster

AMA Ergün D. , Narin E. , Ergün R. , Kanat F. , Göksel B. A Rare Cause of Hypoxemia: Hereditary Methemoglobinemia. J Contemp Med. 2021; 11(6): 924-926.