Clinical Case Report: LECT2-Associated Adrenal Amyloidosis

Mitra L. Rauschecker, MD; Stephanie M. Cologna, PhD; Paraskevi Xekouki, MD, DMedSci; Naris Nilubol, MD; Robert D. Shamburek, MD; Maria Merino, MD; Peter S. Backlund, PhD; Alfred L. Yergey, PhD; Electron Kebebew, MD; James E. Balow, MD; Constantine A. Stratakis, MD, DMedSci; Smita Baid Abraham, MD

AACE Clinical Case Reports (Jan 2015)

Clinical Case Report: LECT2-Associated Adrenal Amyloidosis

Mitra L. Rauschecker, MD,
Stephanie M. Cologna, PhD,
Paraskevi Xekouki, MD, DMedSci,
Naris Nilubol, MD,
Robert D. Shamburek, MD,
Maria Merino, MD,
Peter S. Backlund, PhD,
Alfred L. Yergey, PhD,
Electron Kebebew, MD,
James E. Balow, MD,
Constantine A. Stratakis, MD, DMedSci,
Smita Baid Abraham, MD

Affiliations

Mitra L. Rauschecker, MD: From the Program in Reproductive and Adult Endocrinology; Address correspondence to Dr. Mitra Rauschecker, 10 Center Drive, Building 10, CRC Room 1E-3216, Bethesda, MD 20892.
Stephanie M. Cologna, PhD: Program on Developmental Endocrinology and Genetics
Paraskevi Xekouki, MD, DMedSci: Program on Developmental Endocrinology and Genetics
Naris Nilubol, MD: Endocrine Oncology Branch, National Cancer Institute
Robert D. Shamburek, MD: Cardiovascular and Pulmonary Branch, National Heart Lung and Blood Institute
Maria Merino, MD: Translational Surgical Pathology Section, Laboratory of Pathology, National Cancer Institute
Peter S. Backlund, PhD: Biomedical Mass Spectrometry Facility, the Eunice Kennedy Shriver National Institute of Child Health and Human Development
Alfred L. Yergey, PhD: Biomedical Mass Spectrometry Facility, the Eunice Kennedy Shriver National Institute of Child Health and Human Development
Electron Kebebew, MD: Endocrine Oncology Branch, National Cancer Institute
James E. Balow, MD: National Institute of Diabetes and Digestive and Kidney Disease.
Constantine A. Stratakis, MD, DMedSci: Program on Developmental Endocrinology and Genetics
Smita Baid Abraham, MD: From the Program in Reproductive and Adult Endocrinology

Journal volume & issue: Vol. 1, no. 1
pp. e59 – e67

Abstract

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ABSTRACT: Objective: Leukocyte chemotactic factor-2 (LECT2)- associated amyloidosis is a newly discovered cause of amyloid and has thus far been reported to involve only the kidneys. We report a case of amyloidosis of the adrenal gland, along with involvement of the kidney, in a patient with primary aldosteronism.Methods: Tissue samples from the patient were analyzed using tandem mass spectrometry to identify the amyloid protein, followed by Western blot. DNA sequencing was performed to evaluate genetic polymorphisms.Results: Tandem mass spectrometry identified the amyloid protein as LECT2, and its identity was confirmed by Western blot. Genetic analysis revealed the patient to be homozygous for a genetic polymorphism of the LECT2 gene. Serum levels of LECT2 were undetectable, and no mutations were found in the CTNNB1, KCNJ5, ATP1A1, or ATP2B3 genes.Conclusion: This case appears to be the first published report to describe LECT 2-associated amyloidosis both outside of the kidney and within the adrenal gland.Abbreviations: CT computed tomography CTNNB1 catenin (cadherin-associated protein), beta 1 LDL low-density lipoprotein LECT2 leukocyte chemotactic factor-2 LECT2 AA LECT2-associated amyloid A amyloidosis PA primary aldosteronism SDS sodium dodecyl sulfate

Published in AACE Clinical Case Reports

ISSN: 2376-0605 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the endocrine glands. Clinical endocrinology
Website: https://www.journals.elsevier.com/aace-clinical-case-reports

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