Antibodies against NALP5 and it’s role in hypoparathyroidism in autoimmune polyglandular syndrome type 1

2016 ◽  
Vol 62 (2) ◽  
pp. 25-30
Author(s):  
Leila S. Sozaeva ◽  
Elizaveta M. Orlova ◽  
Bergithe Oftedal ◽  
Maria A. Kareva ◽  
Valentina A. Peterkova ◽  
...  
Keyword(s):  
Positive Predictive Value ◽  
Negative Predictive Value ◽  
Predictive Value ◽  
Parathyroid Glands ◽  
Syndrome Type ◽  
Positive Correlation ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Immune Assay

Hypoparathyroidism is one of major components of autoimmune polyglandular syndrome type 1 (APS type 1) with a prevalence 73—83%. The protein NALP5 has been described previously as an antigen of parathyroid glands. Aim — to investigate antibodies against NALP5 in patients with APS type 1. Material and methods. Seventy nine patients with APS type 1 were included in the study. Radio-immune assay was used for detecting antibodies against NALP5. Results. The correlation between hypoparathyroidism and high levels of antibodies against NALP5 was found (p<0.001). Sensitivity of the method was 69,4%, specificity — 83,3%, positive predictive value — 93,5%, negative predictive value — 44,1%. Correlations between other components of the disease and high levels of the antibodies were not found. Conclusions. We found a positive correlation between antibodies against NALP5 and hypoparathyroidism in APS type 1 patients. We did not find correlations between antibodies against NALP5 and other components of APS type 1.

scholarly journals The value of Cystatin C in the diagnosis of cardiorenal syndrome type 1

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
H A O Phan
Keyword(s):  
Heart Failure ◽  
Positive Predictive Value ◽  
Negative Predictive Value ◽  
Acute Heart Failure ◽  
Cystatin C ◽  
Predictive Value ◽  
Cardiorenal Syndrome ◽  
Syndrome Type ◽  
Model Average

Abstract Background The presence of acute kidney injury in the setting of acute heart failure is very common occurrence and was termed cardiorenal syndrome 1 (CRS1). In CRS1 the diagnosis of acute kidney damage is often delayed by creatinine and urine output following KDIGO standards (Kidney Disease Improving Global Outcomes). Cystatin C is one of the earliest markers of worsening renal function. We studied the value of plasma Cystatin C in the diagnosis of cardiorenal syndrome type 1. Purpose This study was aimed: (1) to decribe clinical, subclinical characteristics, prevalence of CRS1; (2) to evaluate the diagnostic efficacy of Cystatin C in diagnosis of CRS1. Materials and method There were 139 patients with acute heart failure or acute decompensated heart failure (ADHF) in the Department of cardiovascular resuscitation and Interventional cardiology at 115 Ho Chi Minh City People's Hospital from September 2018 to June 2019. This is a prospective cohort study. Results There were 48 cases (rate 34.5%) with CRS1, medium age 66.12±15.77, men accounted for 50.4%. The optimal cut-off Cystatin C for diagnosing CRS1 is &gt;1.81 mg/dl, AUC is 0.787 (95% CI 0.71–0.85, p&lt;0.001), sensitivity 75%, specificity 83.52%, positive predictive value 70.6%, negative predictive value 86.4%. Building the optimal regression model by the BMA (Bayesian Model Average) method with only one variable Cystatin C: Odds Ratio = ey, while y = −2.75 + 1.11x Cystatin C. Moreover, a nomogram with variable Cystatin C was designed to predict the likelihood of CRS1 with AUC 0.842. Ultimately, a confusion matrix was constructed to determine model accuracy 81.82%, sensitivity 78.26%, specificity 100%, positive predictive value 100%, negative predictive value 47.37%. Conclusions Cystatin C is quite good value in the diagnosis of CRS1 in patients with acute heart failure or ADHF. A predictive model based on Cystatin C may help early diagnose CRS1 in patients with acute heart failure or ADHF. FUNDunding Acknowledgement Type of funding sources: None.

Abstract 13758: The Value of Plasma Neutrophil Gelatinase Associated Lipocalin in the Diagnosis of Cardiorenal Syndrome Type 1

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Hao T Phan
Keyword(s):  
Heart Failure ◽  
Positive Predictive Value ◽  
Negative Predictive Value ◽  
Acute Heart Failure ◽  
Predictive Value ◽  
Cardiorenal Syndrome ◽  
Syndrome Type ◽  
Neutrophil Gelatinase Associated Lipocalin ◽  
Neutrophil Gelatinase

Introduction: The presence of acute kidney injury in the setting of acute heart failure is very common occurrence and was termed cardiorenal syndrome 1 (CRS1). In CRS1 the diagnosis of acute kidney damage is often delayed by creatinine and urine output following KDIGO standards (Kidney Disease Improving Global Outcomes). Neutrophil gelatinase-associated lipocalin (NGAL) in the blood and urine is one of the earliest markers of acute kidney damage due to anemia or nephrotoxicity. Hypothesis: Plasma NGAL has good value in the diagnosis of cardiorenal syndrome type 1. Methods: There were 139 patients with acute heart failure or acute decompensated heart failure (ADHF) in the Department of cardiovascular resuscitation and Interventional cardiology at our hospital from September 2018 to June 2019. This is a prospective cohort study Results: There were 48 cases (rate 34.5%) with CRS1, medium age 66.12 ± 15.77, men accounted for 50.4%. The optimal cut-off for diagnosing NGAL CRS1 is > 353.23 ng/ml, AUC is 0.732 (95% CI 0.65-0.80, p <0.001), sensitivity 74.47%, specificity 68.48%, positive predictive value 54.7%, negative predictive value 84%. Building the optimal regression model by the BMA (Bayesian Model Average) method with 2 variables NGAL and creatinin day 1: Odds Ratio= e^y while y = - 2.39 + 0.0037 x NGAL + 0.17 x CreatininD1. Moreover, a nomogram with 2 variables NGAL and creatinin day 1 was designed to predict the likelihood of CRS1 with AUC 0.79 and validated on a testing set (consiting of 40 % of the data) by 10-cross-validation method with accuracy 79.82%. Ultimately, a confusion matrix was constructed to determine model accuracy 75.93%, sensitivity 76.74%, specificity 72.73%, positive predictive value 91.67%, negative predictive value 44.44%. Conclusions: Plasma NGAL is quite good value in the diagnosis of CRS1 in patients with acute heart failure or ADHF. A predictive model based on NGAL may help early diagnose CRS1 in patients with acute heart failure or ADHF.

Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade

2021 ◽  
Vol 14 (4) ◽  
pp. e241680
Author(s):  
Aditya Sanjeevi ◽  
Adlyne Reena Asirvatham ◽  
Karthik Balachandran ◽  
Shriraam Mahadevan
Keyword(s):  
Adrenal Insufficiency ◽  
Vitamin D Supplementation ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Primary Amenorrhoea ◽  
Autoimmune Polyglandular Syndrome ◽  
Nail Changes ◽  
History Of ◽  
Autoimmune Polyglandular Syndrome Type

A 45-year-old woman presented to us with a short-term history of nausea, vomiting and giddiness. On arrival at our hospital, examination revealed postural hypotension. Fluid resuscitation with intravenous normal saline was commenced. She also had chronic mucocutaneous candidiasis and nail changes suggestive of ectodermal dystrophy. Detailed history taking revealed that she had never attained menarche. Serum biochemistries showed hyponatraemia, hyperkalaemia, and hypocalcaemia (sodium, 127 mEq/L; potassium, 6 mEq/L; and albumin-corrected calcium, 6 mg/dL). Adrenocorticotropic hormone-stimulated cortisol (16.7 mcg/dL) was suboptimal favouring adrenal insufficiency. She was started on hydrocortisone and fludrocortisone supplementation. Additionally, the parathyroid hormone was inappropriately low (3.8 pg/mL) confirming hypoparathyroidism. Oral calcium and active vitamin D supplementation were added. With the above clinical and biochemical picture, namely, clustering of primary amenorrhoea, adrenal insufficiency and hypoparathyroidism, the diagnosis pointed towards autoimmune polyglandular syndrome. Genetic workup revealed a deletion in exon 8 of the autoimmune regulator gene confirming the diagnosis of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy/autoimmune polyglandular syndrome type 1 .

scholarly journals A case of late manifestation of primary adrenal insufficiency in the autoimmune polyglandular syndrome type 1

2019 ◽  
Vol 47 (2) ◽  
pp. 175-179
Author(s):  
V. V. Troshina ◽  
T. A. Grebennikova ◽  
Zh. E. Belaya
Keyword(s):  
Adrenal Insufficiency ◽  
Clinical Case ◽  
Clinical Symptoms ◽  
Syndrome Type ◽  
Primary Adrenal Insufficiency ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyendocrine Syndrome ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Timely Treatment

The article describes a clinical case of primary adrenal insufficiency which manifested at an atypically advanced age. Primary adrenal insufficiency combined with other clinical symptoms suggested the autoimmune polyendocrine syndrome type 1. Subsequently, the diagnosis was confirmed by the results of genetic testing. The particulars of the clinical case include the age of patient at manifestation of the disease (49  years). The lack of treatment resulted in dramatic clinical decompensation. This clinical case is intended to draw clinicians' attention to the necessity of detection of primary adrenal insufficiency and appropriate and timely treatment. Taking into account eventual diagnostic problems, it is necessary to raise awareness about this disease among practicing doctors of various specialties.

Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)

1998 ◽  
Vol 103 (6) ◽  
pp. 681-685 ◽  
Author(s):  
Cong-Yi Wang ◽  
Abdoreza Davoodi-Semiromi ◽  
W. Huang ◽  
Ellen Connor ◽  
Jing-Da Shi ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type
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