Advanced search
Publication Cover
Amyloid
The Journal of Protein Folding Disorders
Volume 25, 2018 - Issue 2
Submit an article Journal homepage
181
Views
2
CrossRef citations to date
0
Altmetric
Original Article

Primary adrenal insufficiency due to hereditary apolipoprotein AI amyloidosis: endocrine involvement beyond hypogonadism

Adriana PanéDepartment of Endocrinology and Nutrition, Hospital Clínic, Barcelona, Spain; Correspondence[email protected]
ORCID Iconhttp://orcid.org/0000-0002-7810-1827View further author information
ORCID Icon,
Sabina RuizDepartment of Endocrinology and Nutrition, Hospital Clínic, Barcelona, Spain; View further author information
,
Aida OroisDepartment of Endocrinology and Nutrition, Hospital Clínic, Barcelona, Spain; ORCID Iconhttp://orcid.org/0000-0001-7897-7899View further author information
ORCID Icon,
Daniel MartínezDepartment of Anatomic Pathology, Hospital Clínic, Barcelona, Spain; ORCID Iconhttp://orcid.org/0000-0001-7492-5311View further author information
ORCID Icon,
Mattia SquarciaDepartment of Radiology, Hospital Clínic, Barcelona, Spain; View further author information
,
Lydia SastreDepartment of Hepatology, Hospital Clínic, Barcelona, Spain; View further author information
,
Pablo RuizDepartment of Hepatology, Hospital Clínic, Barcelona, Spain; View further author information
,
Joan CaballeríaDepartment of Hepatology, Hospital Clínic, Barcelona, Spain; ;Institut d’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain; ;Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, SpainView further author information
,
Mireia MoraDepartment of Endocrinology and Nutrition, Hospital Clínic, Barcelona, Spain; View further author information
,
Felicia A. HanzuDepartment of Endocrinology and Nutrition, Hospital Clínic, Barcelona, Spain; ;Institut d’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain; ORCID Iconhttp://orcid.org/0000-0002-2399-4023View further author information
ORCID Icon &
Irene HalperinDepartment of Endocrinology and Nutrition, Hospital Clínic, Barcelona, Spain; ORCID Iconhttp://orcid.org/0000-0003-3151-5990View further author information
ORCID Icon show all
Pages 75-78 | Received 02 Nov 2017, Accepted 05 Feb 2018, Published online: 15 Feb 2018

References

  • Bornstein SR, Allolio B, Arlt W, et al. Diagnosis and treatment of primary adrenal insufficiency: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2016;101:364–389.
  • Ozdemir D, Dagdelen S, Erbas T. Endocrine involvement in systemic amyloidosis. Endocr Pract. 2010;16:1056–1063.
  • Kyle RA. Amyloidosis: a convoluted story. Br J Haematol. 2001;114:529–538.
  • Eriksson M, Schönland S, Yumlu S, et al. Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens. J Mol Diagnostics. 2009;11:257–262.
  • Joy T, Wang J, Hahn A, et al. APOA1 related amyloidosis: a case report and literature review. Clin Biochem. 2003;36:641–645.
  • Scalvini T, Martini PR, Obici L, et al. Infertility and hypergonadotropic hypogonadism as first evidence of hereditary apolipoprotein A-I amyloidosis. J Urol. 2007;178:344–348.
  • Arciello A, Piccoli R, Monti DM. Apolipoprotein A-I: the dual face of a protein. FEBS Lett. 2016;590:4171–4179.
  • Obici L, Franceschini G, Calabresi L, et al. Structure, function and amyloidogenic propensity of apolipoprotein A-I. Amyloid. 2006;13:1–15.
  • Rowczenio D, Dogan A, Theis JD, et al. Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I. Am J Pathol. 2011;179:1978–1987.
  • Traynor CA, Tighe D, O’Brien FJ, et al. Clinical and pathologic characteristics of hereditary apolipoprotein A-I amyloidosis in Ireland. Nephrology. 2013;18:549–554.
  • Booth DR, Tan SY, Booth SE, et al. Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein al gene. J Clin Invest. 1996;97:2714–2721.
  • Caballería J, Bruguera M, Sole M, et al. Hepatic familial amyloidosis caused by a new mutation in the apolipoprotein AI gene: clinical and pathological features. Am J Gastroenterol. 2001;96:1872–1876.
  • Gregorini G, Izzi C, Obici L, et al. Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis. J Am Soc Nephrol. 2005;16:3680–3686.
  • Obici L, Palladini G, Giorgetti S, et al. Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. Gastroenterology. 2004;126:1416–1422.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.