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Autoimmune Hypoparathyroidism


Presentation

  • Abstract Organ-specific autoimmune endocrine disorders may present as single diseases or may occur together in polyendocrine syndromes. We present a report of 23-year-old female with Graves' disease and concurrent hypocalcemia.[ncbi.nlm.nih.gov]
  • In addition to the metaphyseal chondrodysplasia and the short-limb dwarfism, patients may present with a multisystemic disease, associating immune deficiency with recurrent infantile or childhood infections, hematological abnormalities, and gastrointestinal[ncbi.nlm.nih.gov]
  • Antibodies that are directed against the parathyroid cell surface calcium-sensing receptor (CaSR) have recently been recognized to be present in the serum of patients with autoimmune hypoparathyroidism.[ncbi.nlm.nih.gov]
  • Another unique feature of the presented case was the finding of hyperechogenicities in brain parenchyma on transcranial sonography (TCS).[omicsonline.org]
  • In the present study, we show that sera from six AHP patients, but not from 26 patients with other autoimmune diseases or from 7 healthy subjects, react with bovine endothelial cells in culture (by flow cytometry and fluorescence microscopy) and in tissue[ncbi.nlm.nih.gov]
Recurrent Infection
  • No familiar history for tetania; no personal history of recurrent infections or mucocutaneous candidiasis. First blood exams: hypocalcemia (4.4 mg/dl) and low ionised calcium; hyperphosphatemia (9.1 mg/dl); Magnesium 1.6 mg/dl (n.v. 1.7–2.4).[abstracts.eurospe.org]
Intermittent Fever
Gaucher Disease
  • disease niemann-pick disease miscellaneous autoimmune lymphoproliferative syndrome periodic fever, aphthous stomatitis, pharyngitis, sinusitis and lower lid medial eyelashes, and finally triage where a small amount of drug delivery in obstructed airways[miketnelson.com]
Sputum
  • Direct examination of the sputum was positive for alcohol-resistant bacilli and cultures grew Mycobacterium tuberculosis sensitive to all drugs. A full course of anti-tuberculous treatment was started for 6 months.[academic.oup.com]
Hair Hypoplasia
  • Abstract McKusick type metaphyseal chondrodysplasia, or cartilage hair hypoplasia (CHH), is a rare autosomal recessive osteochondrodysplasia secondary to a mutation in the RMRP gene.[ncbi.nlm.nih.gov]
  • 20605844 ) Bachmeyer C....Haymann J.P. 2011 3 Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. ( 19328421 ) Brown E.M. 2009 4 Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair[malacards.org]
Fine Tremor
  • Examination was significant for oral mucosal hyperpigmentation, pigmentation of hands and feet, more prominent on the palmer creases, grade-1b goitre, fine tremors, tachycardia, and significant postural drop of blood pressure [Figure 1].[ijem.in]

Workup

Normal Chest X-Ray
  • Of note, serum glucose level, thyreostimuline hormone and cortisol levels were normal. Chest X-ray displayed bilateral nodules of the lungs and cavitations in the left upper lobe.[academic.oup.com]
Hypocalciuria
  • PTH not dosable, hypocalciuria, normal phosphaturia, normal alcaline phosphatase, 25OHD3 22 ng/ml (n.v. 30–100). She had hypocalcemia secondary to hypoPTH.[abstracts.eurospe.org]
Lymphocytic Infiltrate
  • Diagnosis of gluten-sensitive or celiac disease was suggested at endoscopy, due to flat mucosa and confirmed by histological findings in duodenal biopsy including absent villi, crypt hyperplasia and lymphocytic infiltration in the epithelium.[endocrine-abstracts.org]
  • In idiopathic hypoparathyroidism, lymphocytic infiltration of and autoantibodies against the parathyroid gland have been reported, although it is as yet unclear what proportion of patients have an autoimmune basis for their condition.[link.springer.com]
  • Pathology The pathology of the parathyroid glands in patients with hypoparathyroidism in the context of the PGAD Type 1 reveals an atrophy with a lymphocytic infiltration [ [ 11 ] ].[em-consulte.com]

Treatment

  • Other novel parathyroid autoantigens are starting to be elucidated, suggesting that new approaches to treatment, such as CaSR antagonists or agonists (calcilytics/calcimimetics), may be worthwhile.[ncbi.nlm.nih.gov]
  • Several factors including decreased physical activity, total body magnesium depletion, and intermittent ketoconazole and short-term prednisone treatment, may have contributed to the development and progression of osteoporosis.[ncbi.nlm.nih.gov]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.de]
  • Both conventional treatment for hypoparathyroidism and the novel replacement therapy with PTH peptides are then thoroughly examined.[books.google.de]
  • Each chapter begins with normal function and pathophysiology and quickly moves to clinical conditions and treatment. Numerous illustrations, tables, charts, and graphs make complex subjects understandable. Up-to-date references are also included.[books.google.de]

Prognosis

  • What is the prognosis for a person with Polyglandular Autoimmune Syndrome Type 1? The prognosis for a person with PAS-1 varies depending on the number and severity of his or her symptoms.[counsyl.com]
  • Hypoparathyroidism prognosis If hypoparathyroidism is adequately treated with calcium and vitamin D, the outlook (prognosis) is good. However, this relies on you taking medication daily for life.[patient.info]
  • Prognosis - Hypoparathyroidism Hypoparathyroidism may result in numerous complications if not treated. The following complications are due to low calcium levels, most of which are likely to improve with adequate treatment: Tetany.[checkorphan.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Since we were not able to measure CaSR antibodies we relied on other clinical and laboratory findings that supported our hypothesis of autoimmune etiology.[omicsonline.org]
  • One logical way to classify the different etiologies of hypocalcemia is to break them down into LOW PTH STATES and HIGH PTH STATES. Today I'll review the HYPOCALCEMIA WITH LOW PH STATES, or in other words, the causes of hypoparathyroidism.[renalfellow.blogspot.com]
  • Chapter First Online: 21 January 2015 Abstract Autoimmunity is important with regard to the etiology and pathogenesis of hypoparathyroidism, and in this chapter, evidence for the involvement of autoimmune responses in the development of the disease will[link.springer.com]
  • Presentation of hypoparathyroidism: etiologies and clinical features. J Clin Endocrinol Metab. 2016 Jun;101:2300-12. Bollerslev J, Rejnmark L, Marcocci C, Shoback DM, Sitges-Serra A, Van Biesen W, Dekkers OM.[rarediseases.org]

Epidemiology

  • It opens by addressing in detail the anatomy and physiology of the parathyroids and describing the epidemiology and clinical presentation of hypoparathyroidism.[books.google.de]
  • Epidemiology and diagnosis of hypoparathyroidism. J Clin Endocrinol Metab. 2016 Jun;101:2284-99. Ferre EM, Rose SR, Rosenzweig SD, et al.[rarediseases.org]
  • [Polyglandular autoimmune syndrome type II: epidemiology and forms of manifestation]. Dtsch Med Wochenschr. 1999;124(49):1476-81. [PMID:10629665] Comment: Reviews epidemiology of PAS II. Eisenbarth G, Wilson P, Ward F, et al.[hopkinsguides.com]
  • Epidemiology and diagnosis of hypoparathyroidism. J Clin Endocrinol Metab. 2016;101(6):2284-2299. PMID: 26943720 www.ncbi.nlm.nih.gov/pubmed/26943720. Darr EA, Sritharan N, Pellitteri PK, Sofferman RA, Randolph GW.[medlineplus.gov]
  • Epidemiology More common in women; affects all ages Incidence Most common after surgical procedure of the anterior neck (75% of all cases).[unboundmedicine.com]
Sex distribution
Age distribution

Pathophysiology

  • This edition has been thoroughly revised by world-renowned contributors to reflect recent developments in renal pathophysiology.[books.google.de]
  • Here we discuss the pathophysiology and diagnostic aspects of this treatable disease.[omicsonline.org]
  • Masia, R; Peyton, S; Lauwers, GY Polyglandular autoimmune syndromes Maurer, A; Schwarting, A; Kahaly, GJ Autoimmune polyglandular syndromes Michels, AW; Gottlieb, PA IgG4 antibodies in autoimmune polyglandular disease and IgG4-related endocrinopathies: pathophysiology[deepdyve.com]
  • Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target organ involvement, treatment and challenges for future research. J Bone Min Res. 2011; 26: 2317-37. Khan MI, Waguespack SG, Hu MI.[rarediseases.org]
  • Colorado State University Hypertextbook, Pathophysiology of the Endocrine System [On-line information]. Available online at . Parathyroid Hormone, Intact Molecule. ARUP's Guide to Clinical Laboratory Testing (CLT) [On-line test information].[labtestsonline.it]

Prevention

  • […] to prevent hypoparathyroidism.[mayoclinic.org]
  • If your calcium level becomes drastically low, you may need to have intravenous (IV) calcium to quickly get it into your bloodstream to prevent serious complications.[verywell.com]
  • Prevention - Hypoparathyroidism There are no specific actions you can take to prevent hypoparathyroidism.[checkorphan.org]
  • Early detection of the disease and its component symptoms is important for preventing life-threatening scenarios. With careful monitoring, it is possible to have a normal or near-normal lifespan.[counsyl.com]
  • The inherited forms tend to arise from abnormal genes that may: encode abnormal forms of PTH or its receptor prevent normal conduction of cell signals from the PTH receptor to the nucleus prevent normal gland development before birth.[endocrineweb.com]

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