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A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1

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 o... Full description

Journal Title: The journal of clinical endocrinology and metabolism 2016, Vol.101 (8), p.2975-2983
Main Author: Bruserud, Øyvind
Other Authors: Oftedal, Bergithe E , Landegren, Nils , Erichsen, Martina M , Bratland, Eirik , Lima, Kari , Jørgensen, Anders P , Myhre, Anne G , Svartberg, Johan , Fougner, Kristian J , Bakke, Åsne , Nedrebø, Bjørn G , Mella, Bjarne , Breivik, Lars , Viken, Marte K , Knappskog, Per M , Marthinussen, Mihaela C , Løvås, Kristian , Kämpe, Olle , Wolff, Anette B , Husebye, Eystein S
Format: Electronic Article Electronic Article
Language: English
Subjects:
VDP
Publisher: United States: Endocrine Society
ID: ISSN: 0021-972X
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title: A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1
format: Article
creator:
  • Bruserud, Øyvind
  • Oftedal, Bergithe E
  • Landegren, Nils
  • Erichsen, Martina M
  • Bratland, Eirik
  • Lima, Kari
  • Jørgensen, Anders P
  • Myhre, Anne G
  • Svartberg, Johan
  • Fougner, Kristian J
  • Bakke, Åsne
  • Nedrebø, Bjørn G
  • Mella, Bjarne
  • Breivik, Lars
  • Viken, Marte K
  • Knappskog, Per M
  • Marthinussen, Mihaela C
  • Løvås, Kristian
  • Kämpe, Olle
  • Wolff, Anette B
  • Husebye, Eystein S
subjects:
  • Abridged Index Medicus
  • Adolescent
  • Adult
  • Autoantibodies - blood
  • Child
  • Child, Preschool
  • Clinical Medicine
  • Diabetes
  • Disease Progression
  • DNA Mutational Analysis
  • Endocrinology
  • Endocrinology and Diabetes
  • Endokrinologi
  • Endokrinologi och diabetes
  • Endokrinologi: 774
  • Female
  • Follow-Up Studies
  • Genetic Association Studies
  • Humans
  • Infant
  • Klinisk medicin
  • Klinisk medisinske fag
  • Klinisk medisinske fag: 750
  • Longitudinal Studies
  • Male
  • Medical and Health Sciences
  • Medicin och hälsovetenskap
  • Medisinske Fag
  • Medisinske Fag: 700
  • Middle Aged
  • Norway - epidemiology
  • Original
  • Original Articles
  • Phenotype
  • Polyendocrinopathies, Autoimmune - diagnosis
  • Polyendocrinopathies, Autoimmune - genetics
  • Polyendocrinopathies, Autoimmune - mortality
  • Polyendocrinopathies, Autoimmune - therapy
  • Prognosis
  • Registries
  • Survival Analysis
  • Transcription Factors - genetics
  • VDP
  • Young Adult
ispartof: The journal of clinical endocrinology and metabolism, 2016, Vol.101 (8), p.2975-2983
description: 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 deceased siblings with a high probability of undisclosed APS1. All except three had interferon-ω) autoantibodies, and all had organ-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-ω) 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. Extended follow-up (1996–2016) of 52 Norwegian APS-1 patients describing clinical manifestations, natural course including mortality, autoantibody profiles and Autoimmune Regulator (AIRE) mutations.
language: eng
source:
identifier: ISSN: 0021-972X
fulltext: no_fulltext
issn:
  • 0021-972X
  • 1945-7197
  • 1945-7197
url: Link


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titleA Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1
creatorBruserud, Øyvind ; Oftedal, Bergithe E ; Landegren, Nils ; Erichsen, Martina M ; Bratland, Eirik ; Lima, Kari ; Jørgensen, Anders P ; Myhre, Anne G ; Svartberg, Johan ; Fougner, Kristian J ; Bakke, Åsne ; Nedrebø, Bjørn G ; Mella, Bjarne ; Breivik, Lars ; Viken, Marte K ; Knappskog, Per M ; Marthinussen, Mihaela C ; Løvås, Kristian ; Kämpe, Olle ; Wolff, Anette B ; Husebye, Eystein S
creatorcontribBruserud, Øyvind ; Oftedal, Bergithe E ; Landegren, Nils ; Erichsen, Martina M ; Bratland, Eirik ; Lima, Kari ; Jørgensen, Anders P ; Myhre, Anne G ; Svartberg, Johan ; Fougner, Kristian J ; Bakke, Åsne ; Nedrebø, Bjørn G ; Mella, Bjarne ; Breivik, Lars ; Viken, Marte K ; Knappskog, Per M ; Marthinussen, Mihaela C ; Løvås, Kristian ; Kämpe, Olle ; Wolff, Anette B ; Husebye, Eystein S
descriptionContext: 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 deceased siblings with a high probability of undisclosed APS1. All except three had interferon-ω) autoantibodies, and all had organ-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-ω) 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. Extended follow-up (1996–2016) of 52 Norwegian APS-1 patients describing clinical manifestations, natural course including mortality, autoantibody profiles and Autoimmune Regulator (AIRE) mutations.
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0ISSN: 0021-972X
1ISSN: 1945-7197
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4PMID: 27253668
languageeng
publisherUnited States: Endocrine Society
subjectAbridged Index Medicus ; Adolescent ; Adult ; Autoantibodies - blood ; Child ; Child, Preschool ; Clinical Medicine ; Diabetes ; Disease Progression ; DNA Mutational Analysis ; Endocrinology ; Endocrinology and Diabetes ; Endokrinologi ; Endokrinologi och diabetes ; Endokrinologi: 774 ; Female ; Follow-Up Studies ; Genetic Association Studies ; Humans ; Infant ; Klinisk medicin ; Klinisk medisinske fag ; Klinisk medisinske fag: 750 ; Longitudinal Studies ; Male ; Medical and Health Sciences ; Medicin och hälsovetenskap ; Medisinske Fag ; Medisinske Fag: 700 ; Middle Aged ; Norway - epidemiology ; Original ; Original Articles ; Phenotype ; Polyendocrinopathies, Autoimmune - diagnosis ; Polyendocrinopathies, Autoimmune - genetics ; Polyendocrinopathies, Autoimmune - mortality ; Polyendocrinopathies, Autoimmune - therapy ; Prognosis ; Registries ; Survival Analysis ; Transcription Factors - genetics ; VDP ; Young Adult
ispartofThe journal of clinical endocrinology and metabolism, 2016, Vol.101 (8), p.2975-2983
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0Bruserud, Øyvind
1Oftedal, Bergithe E
2Landegren, Nils
3Erichsen, Martina M
4Bratland, Eirik
5Lima, Kari
6Jørgensen, Anders P
7Myhre, Anne G
8Svartberg, Johan
9Fougner, Kristian J
10Bakke, Åsne
11Nedrebø, Bjørn G
12Mella, Bjarne
13Breivik, Lars
14Viken, Marte K
15Knappskog, Per M
16Marthinussen, Mihaela C
17Løvås, Kristian
18Kämpe, Olle
19Wolff, Anette B
20Husebye, Eystein S
title
0A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1
1The journal of clinical endocrinology and metabolism
addtitleJ Clin Endocrinol Metab
descriptionContext: 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 deceased siblings with a high probability of undisclosed APS1. All except three had interferon-ω) autoantibodies, and all had organ-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-ω) 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. Extended follow-up (1996–2016) of 52 Norwegian APS-1 patients describing clinical manifestations, natural course including mortality, autoantibody profiles and Autoimmune Regulator (AIRE) mutations.
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0Abridged Index Medicus
1Adolescent
2Adult
3Autoantibodies - blood
4Child
5Child, Preschool
6Clinical Medicine
7Diabetes
8Disease Progression
9DNA Mutational Analysis
10Endocrinology
11Endocrinology and Diabetes
12Endokrinologi
13Endokrinologi och diabetes
14Endokrinologi: 774
15Female
16Follow-Up Studies
17Genetic Association Studies
18Humans
19Infant
20Klinisk medicin
21Klinisk medisinske fag
22Klinisk medisinske fag: 750
23Longitudinal Studies
24Male
25Medical and Health Sciences
26Medicin och hälsovetenskap
27Medisinske Fag
28Medisinske Fag: 700
29Middle Aged
30Norway - epidemiology
31Original
32Original Articles
33Phenotype
34Polyendocrinopathies, Autoimmune - diagnosis
35Polyendocrinopathies, Autoimmune - genetics
36Polyendocrinopathies, Autoimmune - mortality
37Polyendocrinopathies, Autoimmune - therapy
38Prognosis
39Registries
40Survival Analysis
41Transcription Factors - genetics
42VDP
43Young Adult
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0Bruserud, Øyvind
1Oftedal, Bergithe E
2Landegren, Nils
3Erichsen, Martina M
4Bratland, Eirik
5Lima, Kari
6Jørgensen, Anders P
7Myhre, Anne G
8Svartberg, Johan
9Fougner, Kristian J
10Bakke, Åsne
11Nedrebø, Bjørn G
12Mella, Bjarne
13Breivik, Lars
14Viken, Marte K
15Knappskog, Per M
16Marthinussen, Mihaela C
17Løvås, Kristian
18Kämpe, Olle
19Wolff, Anette B
20Husebye, Eystein S
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0Endocrine Society
1Copyright by The Endocrine Society
2The Endocrine Society. The Journal of Clinical Endocrinology and Metabolism, 101, 2975–2983
3Univ Bergen, Dept Clin Sci, N-5012 Bergen, Norway.;Haukeland Hosp, Dept Med, N-5021 Bergen, Norway
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titleA Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1
authorBruserud, Øyvind ; Oftedal, Bergithe E ; Landegren, Nils ; Erichsen, Martina M ; Bratland, Eirik ; Lima, Kari ; Jørgensen, Anders P ; Myhre, Anne G ; Svartberg, Johan ; Fougner, Kristian J ; Bakke, Åsne ; Nedrebø, Bjørn G ; Mella, Bjarne ; Breivik, Lars ; Viken, Marte K ; Knappskog, Per M ; Marthinussen, Mihaela C ; Løvås, Kristian ; Kämpe, Olle ; Wolff, Anette B ; Husebye, Eystein S
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0Abridged Index Medicus
1Adolescent
2Adult
3Autoantibodies - blood
4Child
5Child, Preschool
6Clinical Medicine
7Diabetes
8Disease Progression
9DNA Mutational Analysis
10Endocrinology
11Endocrinology and Diabetes
12Endokrinologi
13Endokrinologi och diabetes
14Endokrinologi: 774
15Female
16Follow-Up Studies
17Genetic Association Studies
18Humans
19Infant
20Klinisk medicin
21Klinisk medisinske fag
22Klinisk medisinske fag: 750
23Longitudinal Studies
24Male
25Medical and Health Sciences
26Medicin och hälsovetenskap
27Medisinske Fag
28Medisinske Fag: 700
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30Norway - epidemiology
31Original
32Original Articles
33Phenotype
34Polyendocrinopathies, Autoimmune - diagnosis
35Polyendocrinopathies, Autoimmune - genetics
36Polyendocrinopathies, Autoimmune - mortality
37Polyendocrinopathies, Autoimmune - therapy
38Prognosis
39Registries
40Survival Analysis
41Transcription Factors - genetics
42VDP
43Young Adult
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1Oftedal, Bergithe E
2Landegren, Nils
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7Myhre, Anne G
8Svartberg, Johan
9Fougner, Kristian J
10Bakke, Åsne
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12Mella, Bjarne
13Breivik, Lars
14Viken, Marte K
15Knappskog, Per M
16Marthinussen, Mihaela C
17Løvås, Kristian
18Kämpe, Olle
19Wolff, Anette B
20Husebye, Eystein S
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7Myhre, Anne G
8Svartberg, Johan
9Fougner, Kristian J
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12Mella, Bjarne
13Breivik, Lars
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15Knappskog, Per M
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notes
0This work was supported by grants from the University of Bergen, the Bergen Research Foundation, the Regional Health Authorities of Western Norway (Grant 977878), the Norwegian Research Council (Grant 213704), and the Novo Nordisk Foundation (Grant NNF14OC0011005).
1Journal of Clinical Endocrinology and Metabolism
2A.B.W. and E.S.H. contributed equally to the paper.
abstractContext: 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 deceased siblings with a high probability of undisclosed APS1. All except three had interferon-ω) autoantibodies, and all had organ-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-ω) 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. Extended follow-up (1996–2016) of 52 Norwegian APS-1 patients describing clinical manifestations, natural course including mortality, autoantibody profiles and Autoimmune Regulator (AIRE) mutations.
copUnited States
pubEndocrine Society
pmid27253668
doi10.1210/jc.2016-1821
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