A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1

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A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1

Bruserud, Oyvind (författare): Univ Bergen, Dept Clin Sci, N-5012 Bergen, Norway.

Oftedal, Bergithe E. (författare): Univ Bergen, Dept Clin Sci, N-5012 Bergen, Norway.

Landegren, Nils (författare): Karolinska Institutet,Uppsala universitet,Autoimmunitet,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Dept Med Solna, S-17176 Stockholm, Sweden.,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi,Klinisk diabetologi och metabolism

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Erichsen, Martina M. (författare): Haukeland Hosp, Dept Med, N-5021 Bergen, Norway.

Bratland, Eirik (författare): Univ Bergen, Dept Clin Sci, N-5012 Bergen, Norway.

Lima, Kari (författare): Akershus Univ Hosp, Dept Med, N-1747 Nordbyhagen, Norway.;Oslo Univ Hosp, Dept Endocrinol, N-0372 Oslo, Norway.

Jorgensen, Anders P. (författare): Oslo Univ Hosp, Dept Endocrinol, N-0372 Oslo, Norway.

Myhre, Anne G. (författare): Oslo Univ Hosp, Dept Pediat, N-0424 Oslo, Norway.

Svartberg, Johan (författare): Univ Hosp North Norway, Div Internal Med, N-9019 Tromso, Norway.;Artic Univ Norway, Univ Tromso, Inst Clin Med, N-9019 Tromso, Norway.

Fougner, Kristian J. (författare): St Olavs Hosp, Dept Endocrinol, N-7006 Trondheim, Norway.

Bakke, Asne (författare): Stavanger Univ Hosp, Dept Med, N-4011 Stavanger, Norway.

Nedrebo, Bjorn G. (författare): Univ Bergen, Dept Clin Sci, N-5012 Bergen, Norway.;Haugesund Hosp, Dept Med, N-5504 Haugesund, Norway.

Mella, Bjarne (författare): Ostfold Hosp, Dept Med, N-1603 Fredrikstad, Norway.

Breivik, Lars (författare): Univ Bergen, Dept Clin Sci, N-5012 Bergen, Norway.

Viken, Marte K. (författare): Oslo Univ Hosp, Dept Immunol, N-0372 Oslo, Norway.;Univ Oslo, N-0372 Oslo, Norway.

Knappskog, Per M. (författare): Univ Bergen, Dept Clin Sci, N-5012 Bergen, Norway.;Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway.

Marthinussen, Mihaela C. (författare): Univ Bergen, Fac Med & Dent, Dept Clin Dent, N-5021 Bergen, Norway.;Oral Hlth Ctr Expertise Western Norway, N-5021 Bergen, Norway.

Lovas, Kristian (författare): Univ Bergen, Dept Clin Sci, N-5012 Bergen, Norway.;Haukeland Hosp, Dept Med, N-5021 Bergen, Norway.

Kampe, Olle (författare): Karolinska Institutet

Wolff, Anette B. (författare): Univ Bergen, Dept Clin Sci, N-5012 Bergen, Norway.

Husebye, Eystein S. (författare): Univ Bergen, Dept Clin Sci, N-5012 Bergen, Norway.;Haukeland Hosp, Dept Med, N-5021 Bergen, Norway.

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Univ Bergen, Dept Clin Sci, N-5012 Bergen, Norway Autoimmunitet (creator_code:org_t)

The Endocrine Society, 2016
2016
Engelska.
Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 101:8, s. 2975-2983

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Context: Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disease defined by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insufficiency, and chronic mucocutaneous candidiasis (CMC). Information on longitudinal follow-up of APS1 is sparse. Objective: To describe the phenotypes of APS1 and correlate the clinical features with autoantibody profiles and autoimmune regulator (AIRE) mutations during extended follow-up (1996-2016). Patients: All known Norwegian patients with APS1. Results: Fifty-two patients from 34 families were identified. The majority presented with one of the major disease components during childhood. Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. With age, most patients presented three to five disease manifestations, although some had milder phenotypes diagnosed in adulthood. Fifteen of the patients died during follow-up (median age at death, 34 years) or were deceasedsiblingswithahighprobability of undisclosed APS1. All except three had interferon-omega) autoantibodies, and allhadorgan-specific autoantibodies. The most common AIRE mutation was c.967_979del13, found in homozygosity in 15 patients. A mild phenotype was associated with the splice mutation c.879+1G>A. Primary adrenocortical insufficiency and type 1 diabetes were associated with protective human leucocyte antigen genotypes. Conclusions: Multiple presumable autoimmune manifestations, in particular hypoparathyroidism, CMC, and enamel hypoplasia, should prompt further diagnostic workup using autoantibody analyses (eg, interferon-omega) and AIRE sequencing to reveal APS1, even in adults. Treatment is complicated, and mortality is high. Structured follow-up should be performed in a specialized center.

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MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Endokrinologi oc ...

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A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1

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