P0237COMPARISONS OF CLINICAL FEATURES IN GITELMAN SYNDROME PATIENTS WITH DIFFERENT URINARY CALCIUM EXCRETIONS

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Lei Zhang ◽  
Bingbin Zhao ◽  
Xiaoyan Peng ◽  
Ying Wang ◽  
Limeng Chen
Keyword(s):  
Clinical Features ◽  
Clinical Symptoms ◽  
Urinary Calcium ◽  
Gitelman Syndrome ◽  
Urinary Calcium Excretion ◽  
P Value ◽  
Calcium Excretion ◽  
College Hospital ◽  
Female Ratio ◽  
Gene Testing

Abstract Background and Aims Hypocalciuria is considered typical in Gitelman syndrome (GS). However, a few GS cases diagnosed by gene testing presented as normocalciuria have been reported in recent years. Our study is to observe the clinical features in GS patients with different urinary calcium excretions, and investigate the value of urinary calcium excretion in the clinical classification for GS. Method GS cases from the National Rare Diseases Registry System of China (NRSC) (2016-2018) with SLCl2A3 gene screened in Peking Union Medical College Hospital were collected. The features of urinary calcium excretion were analyzed, and the phenotypes of patients with hypocalciuria were compared to those with normocalciuria. Hydrochlorothiazide (HCT) test was performed and the maximal increasement of chloride excretion fraction (△FECl) was calculated to evaluate the extent of NCC dysfunction. Results A total of 83 genetically proven GS patients was included, with the mean age at diagnosis of 31.0±13.0 years, and the male/female ratio was 1.4:1. Among them, 53 (63.9%) patients had hypocalciuria. The ratio of urinary calcium/creatine was significantly lower in patients with hypocalciuria (0.08±0.06mmol/mmol) compared to those with normocalciuria (0.47±0.28mmol/mmol), with a P value of <0.001. Age, gender, estimated glomerular filtration rate, blood pressure, alkalosis, and serum and urinary electrolytes including potassium, magnesium, natrium, chloride, and phosphorus were all comparable between patients with hypocalciuria and normocalciuria. Based on a standardized symptom questionnaire, fatigue (52.8% vs. 76.7%, P=0.03) and polyuria (9.4% vs. 30.0%, P=0.02) were less frequently reported in hypocalciuria patients, while all the other clinical symptoms were comparable. Sixteen patients in each group underwent HCT test, and the △FECl value was comparable between patients with hypocalciuria and normocalciuria (median, 0.54% vs. 0.83%, P=0.88), both of which indicated a blunt response to HCT (<2.86% according to our previous study). Conclusion The results show that 63.9% of the GS patients in this study had hypocalciuria. There is no definite relationship between urinary calcium excretion, phenotype and the extent of NCC dysfunction.

scholarly journals Identification of novel compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman's syndrome exhibiting Bartter's syndrome-liked phenotypes

2020 ◽  
Author(s):  
Dong Bingzi ◽  
Chen Ying ◽  
Liu Xinying ◽  
Wang Yangang ◽  
Wang Fang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Features ◽  
Metabolic Alkalosis ◽  
Urinary Calcium ◽  
Urinary Calcium Excretion ◽  
Calcium Excretion ◽  
Novel Mutations ◽  
Gitelman's Syndrome ◽  
Slc12a3 Gene ◽  
Renal Tubular

Abstract Background Gitelman's syndrome (GS) is a rare salt-losing renal tubular disorder associated with SLC12A3 gene mutations, which encodes the Na-Cl co-transporter (NCCT). GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia, hypocalciuria and elevated renin-angiotensin-aldosterone (RAA) level. The variability of phenotypes is likely to be associated with the variety of SLC12A3 mutations. Methods In this study, we reported the clinical features and the genetic analysis of a GS family pedigree. Results We identified novel mutations of SLC12A3 , with c.433 C>T (p.Arg145Cys), c.1077 C>G (p.Asn359Lys), and c.1666 C>T (p.Pro556Ser). The proband exhibited hypokalaemia, hypomagnesemia, metabolic alkalosis, but hypercalcuria and kidney stone. The increased urinary calcium excretion made it confused to Bartter's syndrome (BS). The persistent renal potassium wasting associated renal tubular lesions finally affected urinary calcium reabsorption, leading to the increased calcium excretion. Genetic analysis revealed mutations of SLC12A3 with C433T (Arg145Cys, Het), C1077G (Asn359Lys, Het), and C1666T (Pro556Ser, Het). Those missense mutations led to the predicted amino acid change, caused differences of NCCT protein structures and function. One sister of the proband carried the same mutant sites, however, exhibited milder phenotypes including hypokalemia, hypomagnesemia, RAAS activation, but not elevated urinary calcium excretion. With administration of antisterone, potassium chloride and magnesium supplement, the serum potassium and magnesium were maintained in normal ranges. Conclusions In this study, we identified the novel mutations of SLC12A3 and the varieties of clinical features. Further efforts are needed to investigate the diversity in clinical manifestations of GS and its correlation with SLC12A3 mutations.

scholarly journals Urinary Calcium Excretion Pattern in Preeclampsia

2017 ◽  
Vol 11 (2) ◽  
pp. 45-48
Author(s):  
Snigdha Rai ◽  
I Upadhyaya ◽  
Karishma Malla ◽  
Gehanath Baral
Keyword(s):  
Urinary Calcium ◽  
Urinary Calcium Excretion ◽  
P Value ◽  
Calcium Excretion ◽  
Urine Calcium ◽  
Preeclamptic Patient ◽  
Excretion Pattern ◽  
Urine Calcium Excretion ◽  
Sulphosalicylic Acid ◽  
Control Study

Aim: This study aimed to evaluate the urinary calcium excretion pattern in preeclampsia and to establish the relation between severity of preeclampsia and urinary calcium excretionMethods: This was a case-control study conducted at Paropakar Maternity and Women’s Hospital, Kathmandu from January to June 2015. There were 88 patients equally divided in each group. 24 hours urine calcium was analyzed by ortho-cresophthalin-complexone method (OCPC) and urinary proteinuria was analyzed bedside by sulphosalicylic acid. Results were analyzed using SPSS 17. P value of < 0.05 was considered as significant.Results: Preeclampsia was found to occur commonly among the nulliparous patients (59%). The patients with MAP with ≥ 110mmHg excreted less calcium in their urine in comparison to the patient with MAP < 110mmHg (73.55mg/24 hrs VS 92.79 mg/24 hr). Daily calciuria was decreased with the increase in proteinuria (91.43 mg, 76.19mg and 54.02mg in 1+, 2+ and 3+ respectively). The 24 hours urine calcium excretion in term preeclamptic patient was significantly reduced in compared to the normotensive term pregnant women (77.92 mg ± 48.61mg VS 117.66mg ±69.21 mg, p <0.001).Conclusion: Preeclamptic patients excrete significantly lower amounts of calcium in urine and it may be a marker of the severity of preeclampsia.

Effects of excess protein, sodium and potassium on acute and chronic urinary calcium excretion in young women

1998 ◽  
Vol 18 (3) ◽  
pp. 475-487 ◽  
Author(s):  
Susan J Whiting ◽  
Timothy J Green ◽  
Evelyn P MacKenzie ◽  
Shawna J Weeks
Keyword(s):  
Young Women ◽  
Urinary Calcium ◽  
Urinary Calcium Excretion ◽  
Calcium Excretion ◽  
Sodium And Potassium

Adolescents with anorexia nervosa have decreased calcium absorption and increased urinary calcium excretion

1991 ◽  
Vol 12 (2) ◽  
pp. 171
Author(s):  
Steven A. Abrams ◽  
Tomas J. Silber ◽  
Nora V. Esteban ◽  
Nancy E. Vieira ◽  
Mansoud Majd ◽  
...  
Keyword(s):  
Anorexia Nervosa ◽  
Calcium Absorption ◽  
Urinary Calcium ◽  
Urinary Calcium Excretion ◽  
Calcium Excretion

Determinants and outcomes associated with urinary calcium excretion in chronic kidney disease

2021 ◽  
Author(s):  
Jing Liu ◽  
Maria Clarissa Tio ◽  
Ashish Verma ◽  
Insa M Schmidt ◽  
Titilayo O Ilori ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Urinary Calcium ◽  
Urinary Calcium Excretion ◽  
Calcium Excretion ◽  
Atherosclerotic Cardiovascular Disease ◽  
Clinical Events ◽  
Males And Females ◽  
End Stage ◽  
Egfr Decline

Abstract Context Abnormalities in calcium metabolism are common in chronic kidney disease (CKD). Diminished urinary calcium excretion may promote vascular calcification, and increased urinary calcium excretion may lead to nephrolithiasis and nephrocalcinosis, conditions associated with CKD. Objective To study predictors of urinary calcium excretion and its association with adverse clinical outcomes in CKD. Design, Setting and Patients This study assessed 3,768 non-dialysis participants in the Chronic Renal Insufficiency Cohort study from April 2003 to September 2008. Participants were followed up to October 2018. Exposure Clinically plausible predictors of urinary calcium excretion and 24-hour urinary calcium excretion at baseline. Main Outcome Measures Urinary calcium excretion; incident end stage kidney disease (ESKD), CKD progression (50% estimated glomerular filtration rate (eGFR) decline or incident ESKD), all-cause mortality, and atherosclerotic cardiovascular disease events. Results eGFR was positive correlated with 24-hour urinary calcium excretion. The variables most strongly associated with 24-hour urinary calcium excretion were 24-hour urinary sodium (β=0.19 and 0.28 in males and females), serum parathyroid hormone (β=-0.22 and -0.20), loop diuretics (β=0.36 and 0.26), thiazide diuretics (β=-0.49 and -0.53), and self-identified black race (β=-0.23 and -0.27). Lower urinary calcium excretion was associated with greater risks of outcomes, but these associations were greatly attenuated or nullified after adjustment for baseline eGFR. Conclusion Urinary calcium excretion is markedly lower in individuals with CKD compared to general population. Determinants of urinary calcium excretion differed between sexes and levels of CKD. Significant associations between urinary calcium excretion and adverse clinical events were substantially confounded by eGFR.

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