scholarly journals Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Anne D. D. Joseph ◽  
Nirmala D. Sirisena ◽  
Thirunavukarasu Kumanan ◽  
Vathualan Sujanitha ◽  
Veronika Strelow ◽  
...  
Keyword(s):  
Vitamin D ◽  
Hearing Loss ◽  
Renal Disease ◽  
Gene Deletion ◽  
Gene Dosage ◽  
Sensorineural Deafness ◽  
Renal Functions ◽  
Vitamin D Levels ◽  
25 Hydroxy Vitamin D ◽  
Hdr Syndrome

Abstract Background Barakat syndrome is an autosomal dominant rare genetic disease caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene. It is also known as HDR syndrome, and is characterized by varying degrees of hypoparathyroidism, sensorineural deafness and renal disease. This is the first report of a heterozygous GATA3 whole gene deletion causing HDR syndrome in a Sri Lankan family. Case presentation A 13-year-old boy with an acute febrile illness, hypocalcaemia and bilateral carpopedal spasm was referred for evaluation. A past medical history of treatment for persistent hypocalcaemic symptoms since the age of 7 months was obtained. Biochemical investigations showed persistent low serum corrected calcium levels with hyperphosphataemia, hypomagnesaemia, low parathyroid hormone levels, hypercalciuria, and low total 25-hydroxy vitamin D levels. His renal functions and renal sonography were normal. Audiometry showed bilateral moderate to severe sensorineural hearing loss. On screening, his mother was also found to have asymptomatic hypocalcaemia, hypomagnesaemia, hyperphosphataemia, hypercalciuria and low total 25-hydroxy vitamin D levels. She had impaired renal functions and chronic parenchymal changes in the renal scan. Audiometry showed bilateral profound sensorineural hearing loss. Genetic analysis using multiplex-ligation dependent probe amplification showed a reduced gene dosage for GATA3 that is consistent with a heterozygous whole gene deletion in both the child and mother. Conclusions This report demonstrates the wide intra-familial phenotypic variability observed in HDR syndrome and adds further to the existing scientific literature on the genotype-phenotype correlation of this syndrome. It highlights the need for HDR syndrome to be considered in the differential diagnosis of persistent hypocalcaemia with sensorineural deafness and/or renal involvement, and for appropriate genetic evaluation to be done to confirm the diagnosis.

scholarly journals 25-Hydroxy Vitamin D Levels in Hemodialysis-Requiring End-Stage Renal Disease Patients

2008 ◽  
Vol 37 (10) ◽  
pp. 388-390 ◽  
Author(s):  
Guillermo Javier Rosa Diez ◽  
Juliana Fassi ◽  
Soledad Crucelequi ◽  
Hector Rivera Nuñez ◽  
Matias Trillini ◽  
...  
Keyword(s):  
Vitamin D ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Vitamin D Levels ◽  
25 Hydroxy Vitamin D ◽  
Stage Renal Disease ◽  
End Stage

Association of Vitamin D Status With Liver and Kidney Disease: A Systematic Review of Clinical Trials, and Cross-Sectional and Cohort Studies

2019 ◽  
pp. 1-13 ◽  
Author(s):  
Seyed Mostafa Parizadeh ◽  
Majid Rezayi ◽  
Reza Jafarzadeh-Esfehani ◽  
Amir Avan ◽  
Hamideh Ghazizadeh ◽  
...  
Keyword(s):  
Vitamin D ◽  
Kidney Disease ◽  
Renal Disease ◽  
Cohort Studies ◽  
Cochrane Library ◽  
Major Public Health Problem ◽  
Vitamin D Status ◽  
Cross Sectional ◽  
Beneficial Effects ◽  
Vitamin D Levels

Abstract. Background: Vitamin D deficiency (VDD) is a major public health problem. There are few comprehensive systematic reviews about the relationship between Vitamin D status and liver and renal disease in Iran. Methods: We systemically searched the following databases: Web of Science; PubMed; Cochrane Library; Scopus; Science Direct; Google Scholar and two Iranian databases (Scientific Information Database (SID) and IranMedex) up until November 2017 to identify all randomized control trials (RCTs), case control, cross-sectional and cohort studies investigating the association between vitamin D and any form of liver or kidney disease. Results: Vitamin D insufficiency, or deficiency (VDD), is highly prevalent in Iran, reports varying between 44.4% in Isfahan to 98% in Gorgan. There is also a high prevalence of VDD among patients with liver or kidney disease, and the administration of vitamin D supplements may have beneficial effects on lipid profile, blood glucose, liver function and fatty liver disease, and bone health. Low serum vitamin D levels are related with abnormalities in these laboratory and clinical parameters. Conclusion: VDD is prevalent in patients with chronic liver or renal disease in Iran. There appear to be several beneficial effects of vitamin D supplementation in vitamin D deficient patients with liver or kidney disease.

A case of hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome in a boy carrying a novel mutation of GATA3 gene

2020 ◽  
Author(s):  
Laura Mazoni ◽  
Matteo Apicella ◽  
Simona Borsari ◽  
Chiara Banti ◽  
Angela Michelucci ◽  
...  
Keyword(s):  
Renal Disease ◽  
Novel Mutation ◽  
Sensorineural Deafness ◽  
Hdr Syndrome

Prevalence of Vitamin-D Deficiency in Patients with Acute Coronary Syndrome in Syria

2016 ◽  
Vol 9 (6) ◽  
pp. 3544-3548
Author(s):  
Aya Hallak ◽  
Malhis Mahmoud ◽  
Yaser Abajy Mohammad
Keyword(s):  
Vitamin D ◽  
Acute Coronary Syndrome ◽  
Vitamin D Deficiency ◽  
Hypovitaminosis D ◽  
Control Group ◽  
Coronary Syndrome ◽  
Normal Individuals ◽  
Vitamin D Levels ◽  
25 Hydroxy Vitamin D ◽  
Coronary Syndromes

The objectives of this study were to estimate the prevalence of vitamin D deficiency in patients with acute coronary syndrome in comparison with normal individuals and study the correlation between these two conditions. We measured the plasma 25-hydroxy vitamin D (25-OH-D) levels in 60 patients with acute coronary syndromes (ACS) of both gender and in 30 age matched control individuals of both gender without any known cardiovascular or systemic diseases. The levels of 25-OH-D were measured by ELISA method and the results were statically analyzed to find out any possible correlation. We classified the cases according to their plasma 25(OH)D levels. 25(OH)D levels of ≥ 30 ng/ml were considered normal, levels < 30 and > 20 ng/ml were classified as insufficient, while levels of ≤ 20 ng/ml were classified as deficient. In the current study the prevalence of hypovitaminosis D in the patients group was much higher than it was in the control group. Vitamin D deficiency was observed in 80% and insufficiency in 13% of total patients of ACS, there by bringing the total count to 93%. Whereas only 7% of the patients had adequate vitamin D levels. Thus, these results indicate the existence of a significant correlation between the vitamin D deficiency and ACS in comparison to healthy controls

scholarly journals Association Between Serum 25-Hydroxy Vitamin D Levels and Blood Pressure Among Adolescents in Two Resource-Limited Settings in Peru

2015 ◽  
Vol 28 (8) ◽  
pp. 1017-1023 ◽  
Author(s):  
Katherine Tomaino ◽  
Karina M. Romero ◽  
Colin L. Robinson ◽  
Lauren M. Baumann ◽  
Nadia N. Hansel ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Vitamin D ◽  
Resource Limited Settings ◽  
Resource Limited ◽  
Vitamin D Levels ◽  
25 Hydroxy Vitamin D

scholarly journals Serum 25-Hydroxy Vitamin D Levels in Japanese Infants with Respiratory Syncytial Virus Infection Younger than 3 Months of Age

2020 ◽  
Vol 73 (6) ◽  
pp. 443-446
Author(s):  
Hisashi Kawashima ◽  
Masahiro Kimura ◽  
Shinichiro Morichi ◽  
Shigeo Nishimata ◽  
Gaku Yamanaka ◽  
...  
Keyword(s):  
Vitamin D ◽  
Respiratory Syncytial Virus ◽  
Virus Infection ◽  
Respiratory Syncytial Virus Infection ◽  
Vitamin D Levels ◽  
25 Hydroxy Vitamin D ◽  
Syncytial Virus ◽  
Japanese Infants

scholarly journals Low Serum 25-Hydroxy Vitamin D (25-OHD) and Hepatic Encephalopathy in HCV-Related Liver Cirrhosis

2021 ◽  
Vol 2021 ◽  
pp. 1-12
Author(s):  
Mohamed Abd Ellatif Afifi ◽  
Ahmed Mohamed Hussein ◽  
Mahmoud Rizk
Keyword(s):  
Vitamin D ◽  
Liver Cirrhosis ◽  
Liver Disease ◽  
Hepatic Encephalopathy ◽  
Wide Spectrum ◽  
The Other ◽  
Vitamin D Levels ◽  
25 Hydroxy Vitamin D ◽  
Cirrhotic Patients ◽  
Low Serum

Background. Patients with liver cirrhosis experience a large variety of metabolic disorders associated with more hepatic decompensation. Hepatic encephalopathy (HE) is a significant complication in liver cirrhosis patients, presenting a wide spectrum of neuropsychological symptoms. A deficiency of 25-hydroxy vitamin D (25-OHD) in the general population is associated with a loss of cognitive function, dementia, and Alzheimer’s disease. Aim of the Study. Our study aims to check the relationship between low serum 25-OHD and HE in patients with HCV-related liver cirrhosis and assess its link with patient mortality. Patients and Methods. This study was observationally carried out on 100 patients with HCV-related liver cirrhosis. The patients were divided into 2 groups: Group A—included 50 HCV-related cirrhotic patients with HE, and Group B—included 50 HCV-related cirrhotic patients without HE. Assessment of disease severity using the end-stage liver disease (MELD) model and Child Turcotte Pugh (CTP) scores were done, and 25-OHD levels were measured. Comparison of vitamin D levels in different etiologies and different CTP categories was made using one-way ANOVA. Pearson’s correlation between the level of vitamin D and other biomarkers was applied. Results. There was a statistically significant Vitamin D level difference between the two groups. A lower level of vitamin D was observed in the HE group where the severe deficiency was 16%, while it was 6% in the other group and the moderate deficiency was 24% in HE group as compared to 10% in the other group. The insufficient vitamin D level represented 46% of the non-HE group while none of the HE group falls in this category. Vitamin D level was statistically higher in Grade 1 HE than in Grade 2 which is higher than in Grades 3 to 4. Vitamin D level was also significantly higher in those who improved from HE as compared to those who died. Conclusion. The lower levels of 25-OHD were associated with the higher incidence of HE in cirrhotic HCV patients. The worsening vitamin D deficiency was associated with increased severity of the liver disease, so vitamin D may be considered a prognostic factor for the severity of liver cirrhosis and high mortality rate in HE patients.

scholarly journals Hypovitaminosis D in Healthy Health Care Professionals: A Real Deficiency or Necessity of New Reference Value for Specific Population?

2018 ◽  
Vol 6 (1) ◽  
pp. 1-5
Author(s):  
Rajendra Dev Bhatt ◽  
Nikita Pradhan ◽  
Rojeena Gurung ◽  
Prabodh Risal
Keyword(s):  
Health Care ◽  
Vitamin D ◽  
Health Care Professionals ◽  
Pearson Correlation ◽  
Significant Proportion ◽  
Reference Value ◽  
Total Serum ◽  
Vitamin D Levels ◽  
25 Hydroxy Vitamin D ◽  
Apparently Healthy

Introduction: Vitamin D, a steroid vitamin, has attracted noticeable interest of clinicians and researchers for decades because of its diverse array of biological functions. Various studies have shown that the level of vitamin D is low in significant proportion of healthy individuals. However, indoor workers especially health care professionals are not focused, particularly in Nepal. We aimed to measure level of vitamin D in apparently healthy health care professionals. Methods: A descriptive cross-sectional study was carried out in apparently healthy health care professionals working at Kathmandu University Hospital in Dhulikhel, Nepal. Structured questionnaire including socio­demographics, dietary habits, and anthropometric measurements was filled in by the participants. Total serum 25-hydroxy vitamin D was measured by Chemiluminescence Immunoassay (CLIA) technique. Results were analyzed with t-test, Chi-square test, and Pearson correlation test. Results: Data from 64 female and 47 male were analyzed, mean 25-hydroxy vitamin D level was 8.81 ng/dl (SD = 4). Almost all (98.2%, n = 109) participants had vitamin D lower than normal where 72.7% (n = 92) were deficient, 24.5% (n = 17) were insufficient, and only 2.7% (n = 2) were having adequate level. Non-specific body pain was the only factor among all we studied that was significantly associated with vitamin D levels (p = 0.002). Conclusion: Hypovitaminosis of 25-hydroxy vitamin D was found to be very common (98.2%) in apparently healthy health care subjects of Dhulikhel Hospital. This may necessitate further research to redefine the biological reference value for our population.

scholarly journals Correlation Between 25-hydroxy-Vitamin D and Parkinson's Disease:A Case-Control study

2020 ◽  
Author(s):  
ming xia ◽  
wenjuan Xiu ◽  
Xuliang Wang ◽  
Tingting Wu ◽  
Yingying Zheng ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Vitamin D ◽  
Parkinson's Disease ◽  
Vitamin D Deficiency ◽  
Case Control Study ◽  
Case Control ◽  
Lower Serum ◽  
Vitamin D Levels ◽  
25 Hydroxy Vitamin D ◽  
Control Study

Abstract Background: Previous cross-sectional studies have shown that Parkinson’s disease (PD) patients have lower serum 25- hydroxy vitamin D (25(OH)D) concentrations than controls. whether the research in other regions findings are generalizable to China populations remains untested in other studies. In this case-control study we examined the Correlation between 25-hydroxy-vitamin D and Parkinson's disease.Methods:We establish an association between deficiency of 25-hydroxy-vitamin D and PD in a case-control study of 100 PD patients and 100 control subjects free of neurologic disease in the First Affliated Hospital of Xinjiang Medical University.Results:Total 25-hydroxy-vitamin D levels, were deficient in 21% of patients with PD compared with 4% of controls. In univariate analyses Plasma levels of 25-hydroxy-vitamin D were associated with PD(p<0.001), respectively. In multivariate analyses, Vitamin D deficiency(25(OH)D <20 ng/mL) were significant associated with PD (p=0.008,OR=17.13,95% CI, 2.082-141.075). Individuals with levels in the lowest quartile of 25(OH)D values had the highest prevalence of PD(p =0.026,OR=11.786,95%CI,1.342-103.51)compared with individuals with values in the highest quartile.Conclusions:Our study reveals an association between 25-hydroxy-vitamin D and PD.Patients with incident PD had significantly lower serum 25(OH)D concentrations than age-matched controls, High-risk PD patients with vitamin D deficiency who have not yet developed exercise impairment, these populations should undergo vitamin D measurement and vitamin D treatment as soon as possible.

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