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CC BY 4.0 · Journal of Child Science 2022; 12(01): e196-e199
DOI: 10.1055/s-0042-1757149
Case Report

Congenital Analbuminemia Associated with Hypothyroidism in a Preterm Neonate: The First Case from a Highly Consanguineous Community

Manar Al-lawama 
1   The Pediatric Department, The University of Jordan, Amman, Jordan
,
Jumana Albaramki
1   The Pediatric Department, The University of Jordan, Amman, Jordan
,
Arwa Kiswani
1   The Pediatric Department, The University of Jordan, Amman, Jordan
,
Sara Kussad
1   The Pediatric Department, The University of Jordan, Amman, Jordan
,
Rasha Odeh
1   The Pediatric Department, The University of Jordan, Amman, Jordan
,
Eyad Altamimi
2   The Pediatric and Neonatal Department, Jordan University for Science and Technology, Irbid, Jordan
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Abstract

Analbuminemia is a rare autosomal recessive disease characterized by extremely low or zero levels of circulating serum albumin. The diagnosis is made by ruling out other causes of hypoalbuminemia and should be confirmed by gene mutation analysis. In this article, we describe the clinical findings of a preterm neonate born to a consanguineous family who presented with progressive lower limb edema at the age of 7 days and who was confirmed as having congenital analbuminemia by genetic testing (homozygous mutation ALB NP_000468.1: p. Val78CysfsTer2) and hypothyroidism. This is the first case of congenital analbuminemia to be reported from Jordan.

Keywords

analbuminemia - albumin - rare disease - neonatal edema


Publication History

Received: 09 February 2022

Accepted: 11 July 2022

Article published online:
16 November 2022

© 2022. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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  • References

  • 1 Peters Jr T. All about Albumin: Biochemistry, Genetics, and Medical Applications. Academic Press; 1995
    Google Scholar
  • 2 Koot BG, Houwen R, Pot DJ, Nauta J. Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review. Eur J Pediatr 2004; 163 (11) 664-670
    PubMedGoogle Scholar
  • 3 Kragh-Hansen U. Human Serum Albumin: A Multifunctional Protein. In: Otagiri M, Chuang V, eds. Albumin in Medicine. Singapore: Springer; 2016
    Google Scholar
  • 4 Minghetti PP, Ruffner DE, Kuang WJ. et al. Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4. J Biol Chem 1986; 261 (15) 6747-6757
    CrossrefPubMedGoogle Scholar
  • 5 Minchiotti L, Campagnoli M. Genetic variants of human serum albumin. Albumin. January 2021. Accessed July 27, 2022 at: https://www.albumin.org
    PubMedGoogle Scholar
  • 6 Minchiotti L, Caridi G, Campagnoli M, Lugani F, Galliano M, Kragh-Hansen U. Diagnosis, phenotype, and molecular genetics of congenital Analbuminemia. Front Genet 2019; 10: 336
    CrossrefPubMedGoogle Scholar
  • 7 Online Mendelian Inheritance in Man. OMIM®. Baltimore, MD: Johns Hopkins University. MIM Number: {616000 }: {06/03/2021}. Accessed July 27, 2022 at: https://omim.org/
    PubMedGoogle Scholar
  • 8 Dammacco F, Miglietta A, D'Addabbo A, Fratello A, Moschetta R, Bonomo L. Analbuminemia: report of a case and review of the literature. Vox Sang 1980; 39 (03) 153-161
    CrossrefPubMedGoogle Scholar
  • 9 Toye JM, Lemire EG, Baerg KL. Perinatal and childhood morbidity and mortality in congenital analbuminemia. Paediatr Child Health 2012; 17 (06) e20-e23
    PubMedGoogle Scholar
  • 10 Ruffner DE, Dugaiczyk A. Splicing mutation in human hereditary analbuminemia. Proc Natl Acad Sci U S A 1988; 85 (07) 2125-2129
    CrossrefPubMedGoogle Scholar
  • 11 Watkins S, Madison J, Galliano M, Minchiotti L, Putnam FW. A nucleotide insertion and frameshift cause analbuminemia in an Italian family. Proc Natl Acad Sci U S A 1994; 91 (06) 2275-2279
    CrossrefPubMedGoogle Scholar
  • 12 Cormode EJ, Lyster DM, Israels S. Analbuminemia in a neonate. J Pediatr 1975; 86 (06) 862-867
    CrossrefPubMedGoogle Scholar
  • 13 Kallee E. Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992). J Lab Clin Med 1996; 127 (05) 470-480
    CrossrefPubMedGoogle Scholar
  • 14 Kang J, Holland M, Jones H, Kaysen GA. Coordinate augmentation in expression of genes encoding transcription factors and liver secretory proteins in hypo-oncotic states. Kidney Int 1999; 56 (02) 452-460
    CrossrefPubMedGoogle Scholar
  • 15 Hollander CS, Bernstein G, Oppenheimer JH. Abnormalities of thyroxine binding in analbuminemia. J Clin Endocrinol Metab 1968; 28 (07) 1064-1066
    CrossrefPubMedGoogle Scholar
  • 16 Platt HS, Barron N, Giles AF, Midgley JE, Wilkins TA. Thyroid-function indices in an analbuminemic subject being treated with thyroxin for hypothyroidism. Clin Chem 1985; 31 (02) 341-342
    CrossrefPubMedGoogle Scholar
  • 17 Suppressa P, Carbonara C, Lugani F. et al. Congenital analbuminemia in a patient affected by hypercholesterolemia: a case report. World J Clin Cases 2019; 7 (04) 466-472
    CrossrefPubMedGoogle Scholar
  • 18 Crook MA. Annals of Clinical Biochemistry. Analbuminaemia: clinical features and associated hypercholesterolaemia. Ann Clin Biochem 2016; 53 (Pt 5): 525-526
    CrossrefPubMedGoogle Scholar
  • 19 Caridi G, de Abreu IBR, Alves JA. et al. A novel splicing mutation in the ALB gene causing analbuminaemia in a Portuguese woman. Pathology 2018; 50 (06) 679-682
    CrossrefPubMedGoogle Scholar
  • 20 Burgess LJ, Marais AD. The use of simvastatin in analbuminaemia. Cardiovasc Drugs Ther 2001; 15 (06) 555-558
    CrossrefPubMedGoogle Scholar
  • 21 Galliano M, Campagnoli M, Rossi A. et al. Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. Clin Chem 2002; 48 (6 Pt 1): 844-849
    CrossrefPubMedGoogle Scholar
  • 22 Minchiotti L, Galliano M, Caridi G, Kragh-Hansen U, Peters Jr T. Congenital analbuminaemia: molecular defects and biochemical and clinical aspects. Biochim Biophys Acta 2013; 1830 (12) 5494-5502
    CrossrefPubMedGoogle Scholar