scholarly journals The Diagnosis Algorithm of Chronic Hypokalemia in Bartter Syndrome and Gitelman Syndrome: A Case Report

2021 ◽  
Vol 2 (2) ◽  
pp. 216-221
Author(s):  
Ro'di Fajri ◽  
◽  
Isbandiyah Isbandiyah ◽  
Gusti Pambudi ◽  
◽  
...  
Keyword(s):  
Normal Sinus Rhythm ◽  
Genetic Disorders ◽  
Plasma Potassium ◽  
Bartter Syndrome ◽  
Gitelman Syndrome ◽  
Electrolyte Imbalance ◽  
Urinary Potassium ◽  
Diuretic Drugs ◽  
History Of ◽  
Diagnosis Algorithm

Introduction: Hypokalemia is common disorder characterized by low plasma potassium levels (<3.5 mEq / L). Hypokalemia can be caused by genetic disorders. Bartter syndrome and Gitelman syndrome are rare genetic disorders that cause damage to the tubular kidneys. The cause of hypokalemia must be determined by analyzing the diagnosis algorithm of hypokalemia. Case Illustration: A 27-year-old woman was brought to the emergency room with complaints of weakness in both legs since 1 day ago. Obtained a history of chronic hypokalemia since 5 years ago. No history of thyroid disease, and never taking diuretic drugs. The patient is calm. Vital signs: BP: 110/60, regular pulse 88x/minute, temperature: 36.7°C, respiratory rate 14x/minute, oxygen saturation 99% in room air. ECG showed Normal sinus rhythm with normal T wave. Laboratory findings showed severe hypokalemia with plasma potassium 1.7 mEq/L, increased urine potassium (71.1 mmol/24 hours), increased urine sodium 306 mmol/24 hours, and increased urine chloride (342 mmol/24 hours), plasma magnesium levels were normal (1.91 mg/dL). KCl infusion was given to correct electrolyte imbalance condition. Discussion: : Several examinations must be performed to confirm the cause of hypokalemia condition. The diagnosis of this patient was suspected to lead to Bartter syndrome and Gitelman syndrome, because there was an increase in urinary potassium excretion, normotensive conditions, no suspicion of metabolic acidosis, and no symptoms of nausea and vomiting and no history of diuretic drugs usage. Keywords: Hypokalemia, Bartter syndrome, Gitelman syndrome

scholarly journals A Case Report: Gitelman Syndrome or Bartter Syndrome?

2020 ◽  
Author(s):  
YuanBin WU ◽  
Jingjing Hu ◽  
Bo Wang ◽  
Dongxin Yang ◽  
Han Zheng ◽  
...  
Keyword(s):  
Bartter Syndrome ◽  
Gitelman Syndrome ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Slc12a3 Gene ◽  
Hypokalemic Alkalosis ◽  
Chinese Girl ◽  
History Of ◽  
Laboratory Examinations

Abstract Background: Gitelman syndrome (GS) is a rare autosomal recessive inherited tubular disease which is caused by mutation in the SLC12A3 gene. It is characterized by hypokalemic alkalosis with hypomagnesemia and hypocalciuria, and can cause serious complications such as arrhythmia, syncope, sudden death, etc. Bartter syndrome (BS) is similar to Gitelman syndrome in clinical and laboratory examinations. If lack of sufficient understanding of the disease, it is easy to cause misdiagnosis and missed diagnosis. Case presentation: A 6-year-old Chinese girl presented with history of hand and foot spasms and was diagnosed with hypokalemia. Although multiple symptomatic treatments of potassium supplementation was given, is the concentration of potassium was still at a low level. Gene analysis revealed that the presence of two heterozygous mutations, i.e. a missense mutation c.248G> A and a frameshift mutation c.2875_2876del, in the SLC12A3 gene.The child was diagnosed with Gitelman syndrome(GS) due to SLC12A3 compound heterozygous mutation. Through treatment, the level of ion metabolism in children remains stable. Conclusions: By reviewing its clinical characteristics and diagnosis and treatment ideas, we can help improve clinicians' understanding of children's GS.

scholarly journals Gitelman syndrome and ectopic calcification in the retina and joints

2021 ◽  
Author(s):  
Yeji Ham ◽  
Heather Mack ◽  
Deb Colville ◽  
Philip Harraka ◽  
B Biomed ◽  
...  
Keyword(s):  
Calcium Pyrophosphate ◽  
Bartter Syndrome ◽  
Gitelman Syndrome ◽  
Ectopic Calcification ◽  
Aggressive Management ◽  
Renal Tubular Disorder ◽  
Rate Of Progression ◽  
Renal Tubular ◽  
Retinal Photography

ABSTRACT Gitelman syndrome is a rare inherited renal tubular disorder with features that resemble thiazide use, including a hypokalemic metabolic alkalosis, hypomagnesemia, hypocalciuria, a low or normal blood pressure, and hyperreninemia and hyperaldosteronism. Treatment is primarily correction of the K and Mg levels. The diagnosis is confirmed with genetic testing but Gitelman syndrome is often not suspected. However the association with ectopic calcification in the retina, blood vessels and chondrocalcinosis in the joints is a useful pointer to this diagnosis. Bilateral symmetrical whitish deposits of calcium pyrophosphate are visible superotemporally on ophthalmoscopy and retinal photography but are actually located beneath the retina in the sclerochoroid. Optical coherence tomography is even more sensitive for their detection. These deposits increase in size with time, but the rate of progression slows with long-term correction of the hypomagnesemia. Calcification may be complicated by atrophy of the overlying retina and visual loss. The deposits often correlate with ectopic calcification in the aorta, coronary and cerebral vessels. Chondrocalcinosis occurs in the large joints such as the knees. Ectopic calcification in Gitelman syndrome indicates the need for more aggressive management of Ca and Mg levels. Calcification is much less common in Bartter syndrome which itself is rarer and associated less often with hypomagnesemia.

scholarly journals COVID-19 in a Cohort of Patients with Congenital Myasthenic Syndrome

2021 ◽  
pp. 1-3
Author(s):  
Setareh Alabaf ◽  
Karen O'Connell ◽  
Sithara Ramdas ◽  
David Beeson ◽  
Jacqueline Palace
Keyword(s):  
High Risk ◽  
Neuromuscular Transmission ◽  
Genetic Disorders ◽  
Severe Disease ◽  
Congenital Myasthenic Syndrome ◽  
Referral Centre ◽  
History Of ◽  
Myasthenic Syndrome ◽  
The Uk ◽  
Rare Group

Congenital Myasthenic Syndrome (CMS) are a rare group of genetic disorders of neuromuscular transmission. Some subtypes of CMS can be associated with respiratory and bulbar weakness and these patients may therefore be at high risk of developing a severe disease from COVID-19. We screened 73 patients with genetically confirmed CMS who were attending the UK national referral centre for evidence of previous Severe Acute Respiratory Syndrome Corona Virus 2 infection and their clinical outcome. Of 73 patients, seven had history of confirmed COVID-19. None of the infected patients developed a severe disease, and there were no signals that CMS alone carries a high risk of severe disease from COVID-19.

Type-5 Bartter syndrome presenting with metabolic seizure in adulthood

2021 ◽  
Vol 14 (2) ◽  
pp. e235349
Author(s):  
Aqeel Hussain ◽  
Mahendra Atlani ◽  
Abhishek Goyal ◽  
Alkesh Kumar Khurana
Keyword(s):  
Age Of Onset ◽  
Bartter Syndrome ◽  
Electrolyte Imbalance ◽  
Thick Ascending Limb ◽  
Calcium Sensing Receptor ◽  
Inherited Disorders ◽  
Calcium Sensing ◽  
Aged Woman ◽  
Middle Aged Woman ◽  
Renal Tubular

Bartter syndrome is a very rare and heterogeneous disease with variable age of onset and symptom severity. Genotypically they have inherited disorders of the thick ascending limb in the renal tubular system, which manifest phenotypically as electrolyte imbalance due to loss of sodium, chloride and potassium. Gain of function mutations in the calcium-sensing receptor has been described in some patients with Bartter’s syndrome (type-5 Bartter syndrome or autosomal dominant hypocalcaemia with Bartter syndrome) associated with hypocalcaemia and hypercalciuria differentiating it from Gitelman syndrome. This phenotype has been reported to present in adulthood with metabolic abnormalities. We present a case of a middle-aged woman who presented with metabolic seizures and on evaluation was found to have profound electrolyte abnormalities which were corrected with supplements and led to the resolution of symptoms.

Urinary Potassium Excretion in the Critically III Neonate

PEDIATRICS ◽  
1984 ◽  
Vol 74 (2) ◽  
pp. 259-264
Author(s):  
William D. Engle ◽  
Billy S. Arant
Keyword(s):  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Distress Syndrome ◽  
Plasma Potassium ◽  
Preterm Neonates ◽  
Prostaglandin E ◽  
Potassium Excretion ◽  
Potassium Balance ◽  
Frequent Use ◽  
Urinary Potassium

The possibility that negative potassium balance may occur in critically ill preterm neonates is suggested by factors such as the usual provision of minimal potassium intake, increased plasma aldosterone concentrations, increased prostaglandin synthesis, and the frequent use of diuretic agents. In order to assess the relationship between potassium balance and renal prostaglandins, nine infants with respiratory distress syndrome (mean birth weight 1,264 g, mean gestational age 30.6 weeks) were studied sequentially with timed-urine collections during the first four postnatal days and values were compared with those of 18 preterm infants without respiratory distress syndrome. Mean plasma potassium concentrations decreased significantly from 4.87 ± 0.19 mEq/L (mean ± SEM) on day 1 to 3.83 ± 0.18 mEq/L on day 4, (P &lt; 0.05), and cumulative potassium balance was -4.07 ± 0.95 mEq/kg or 10% of estimated total body potassium. Urinary excretion of prostaglandin E, on day 1 in infants with respiratory distress syndrome was significantly greater than in those without respiratory distress syndrome (22.0 ± 4.9 v 8.3 ± 1.6 ng/mg of creatinine) and varied directly with urinary potassium excretion (r = .66, P &lt; .001). These studies suggest that consideration be given to the importance of providing sufficient potassium to prevent hypokalemia in the stressed preterm infant and that pharmacologic agents that alter prostaglandins or potassium excretion should be used with caution.

Abstract P395: Color of Fruits, Vegetables and Blood Pressure: The INTERMAP Study

Circulation ◽  
2013 ◽  
Vol 127 (suppl_12) ◽  
Author(s):  
Linda M Oude Griep ◽  
Jeremiah Stamler ◽  
Queenie Chan ◽  
Linda van Horn ◽  
Lyn M Steffen ◽  
...  
Keyword(s):  
Blood Pressure ◽  
United Kingdom ◽  
Fruits And Vegetables ◽  
Vegetable Intake ◽  
Fruit And Vegetable Intake ◽  
Regression Coefficients ◽  
Fruit And Vegetable ◽  
Orange Yellow ◽  
Urinary Potassium ◽  
History Of

Background: The color of the edible portion of fruits and vegetables, reflecting the presence of pigmented phytochemicals, may be used as an indicator of their nutrient profile. Previous cohort and intervention studies have documented beneficial associations of fruits and vegetables with blood pressure (BP). However, whether the color of fruits and vegetables is associated with BP is unknown. Methods: We used cross-sectional data from the International Study of Macro-/Micronutrients and Blood Pressure (INTERMAP) on 4,680 men and women ages 40-59 years from Japan, China, United Kingdom, and United States. During four visits, eight BP measurements and four 24-hr dietary recalls were completed. Fruits and vegetables were categorized in 4 color groups: green, orange/yellow, red/purple, and white. BP regression coefficients per 2SD higher intake were estimated using multivariable linear regression models. To estimate overall associations, country-specific regression coefficients were pooled, weighted by inverse of their variance. Adjustments were for age, gender, sample, intake of total energy and alcohol, 24-hr urinary sodium excretion, smoking, education, dietary supplement use, adherence to any special diet, history of cardiovascular diseases or diabetes, family history of hypertension, use of medication (antihypertensive, cardiovascular or for diabetes), body mass index, and intake of low-fat dairy, fibre-rich grain products, red and processed meats, fish and shellfish, and mutually for other fruit and vegetable color groups. Results: Average daily fruit plus vegetable intakes (g/1000 kcal) was 183 in the total population, varying from 129 in the United Kingdom to 222 in China. White fruits and vegetables contributed 32% of total fruit and vegetable intake, orange/yellow 27%, green 26%, and red/purple 15%. Fruit and vegetable color groups were weakly related to each other, partial r values ranged from 0.08 for green with red/purple to 0.15 for white with orange/yellow. Fruit and vegetable color groups were highly correlated with dietary and urinary potassium; highest correlation coefficients were for white fruits and vegetables (r=0.46 for dietary and r=0.26 for urinary potassium). Green fruits and vegetables were also highly related to beta-carotene (r=0.40) and dietary fiber (r=0.40), orange fruits and vegetables to vitamin C (r=0.59), and white fruits and vegetables to dietary fibre (r=0.49). Green fruit and vegetable intake higher by 90 g/1000 kcal was associated with a systolic BP difference of -1.19 mm Hg (P<0.05). Green fruits and vegetables comprised mainly green vegetables including: cabbages (52%), lettuces (21%), dark leafy (10%), and a heterogeneous group (17%). Other fruit and vegetable color groups and total fruits plus vegetables were not associated with BP. Conclusion: Higher intake of green fruits and vegetables may contribute to lower systolic BP.

A Case Report of Delirium Induced by Herbal Laxative Senna

2021 ◽  
Vol 11 (6) ◽  
pp. 231-233
Author(s):  
Nimitha K J ◽  
Porimita Chutia ◽  
Pooja Misal
Keyword(s):  
Case Report ◽  
Serum Sodium ◽  
Elderly Population ◽  
Oral Intake ◽  
Mental Illnesses ◽  
Electrolyte Imbalance ◽  
Normal Limits ◽  
Icd 10 ◽  
Current Scenario ◽  
History Of

Constipation is one major complaint in elderly population. It may be due to physiological and anatomical reasons of aging, but it can be also due chronic medical and mental illnesses and due to use of multiple medications. Constipation itself is a precipitating factor for delirium. Drugs used for constipation can also be the culprit. A 64-year-old female who had a history of hypertension and chronic constipation presented with symptoms of confused and altered behavior, decreased oral intake, decreased sleep. On history taking it was known that she was using Herbal medication containing senna glycoside and other compounds since 8-9months. On examination she had signs of dehydration, disoriented and attention was impaired. On investigation her serum sodium was 122.6 mmol/ and other investigations were within normal limits. She was diagnosed as a case of Delirium according to ICD-10 criteria. Her dehydration was corrected by giving intravenous fluids and serum sodium level was corrected using salt capsules 2 tablets thrice daily. For disturbed sleep she was prescribed Tab Melatonin 10mg at bedtime and constipation was treated with per rectal enema and syrup lactulose 30ml at bedtime. Patient improved in 1 week time. Senna a herbal laxative used to treat constipation. It can alter intestinal electrolyte transportation and irritates intestinal mucosa. It is due to increased peristalsis and increased defecation and even diarrhea Prolonged use can cause dehydration, electrolyte imbalance and delirium. Senna, an over-the-counter laxative with FDA approval is a matter of concern in the current scenario. This case report warns into the judicious use of laxatives containing senna in elderly population. Key words: Delirium, Herbal Laxative, Senna, Constipation.

Effect of insulin on renal potassium metabolism

1987 ◽  
Vol 252 (1) ◽  
pp. F60-F64 ◽  
Author(s):  
L. Rossetti ◽  
G. Klein-Robbenhaar ◽  
G. Giebisch ◽  
D. Smith ◽  
R. DeFronzo
Keyword(s):  
Potassium Concentration ◽  
Insulin Dose ◽  
Plasma Potassium ◽  
High Dose ◽  
Base Line ◽  
Potassium Excretion ◽  
Insulin Clamp ◽  
Urinary Potassium ◽  
Plasma Insulin Levels ◽  
Renal Potassium Excretion

The effect of insulin on renal potassium excretion was examined by employing the euglycemic insulin clamp technique in combination with renal clearance measurements. While euglycemia was maintained, insulin was infused at rates of 4.8 (n = 7) and 12 (n = 5) mU X kg-1 X min-1. Steady-state plasma insulin levels of 164 +/- 8 and 370 +/- 15 microU/ml were achieved in the low- and high-dose studies, respectively. Base-line plasma potassium concentration declined progressively by a mean of 0.14 +/- 0.09 (P less than 0.05) and 0.40 +/- 0.05 meq/liter (P less than 0.01) during the low- and high-dose insulin infusion protocols. Urinary potassium excretion did not change significantly from base line with either insulin dose. Because the decline in plasma potassium concentration could have masked a stimulatory effect of insulin on UKV, six rats received a 12-mU X kg-1 X min-1 euglycemic insulin clamp in combination with an exogenous potassium infusion to maintain the plasma potassium concentration constant at the basal level (4.03 +/- 0.03 vs. 4.05 +/- 0.05 meq/l). Under these conditions of normokalemia, insulin augmented UKV 2.4-fold, from 0.20 +/- 0.05 to 0.48 +/- 0.04 meq/l (P less than 0.001).

scholarly journals The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

2021 ◽  
Vol 9 ◽  
Author(s):  
Audrey C. Woerner ◽  
Renata C. Gallagher ◽  
Jerry Vockley ◽  
Aashish N. Adhikari
Keyword(s):  
Newborn Screening ◽  
Exome Sequencing ◽  
Genetic Disorders ◽  
Population Based ◽  
Lessons Learned ◽  
Screening Tests ◽  
Whole Genome ◽  
Whole Exome ◽  
Challenges And Opportunities ◽  
History Of

Newborn screening (NBS) is a population-based program with a goal of reducing the burden of disease for conditions with significant clinical impact on neonates. Screening tests were originally developed and implemented one at a time, but newer methods have allowed the use of multiplex technologies to expand additions more rapidly to standard panels. Recent improvements in next-generation sequencing are also evolving rapidly from first focusing on individual genes, then panels, and finally all genes as encompassed by whole exome and genome sequencing. The intersection of these two technologies brings the revolutionary possibility of identifying all genetic disorders in newborns, allowing implementation of therapies at the optimum time regardless of symptoms. This article reviews the history of newborn screening and early studies examining the use of whole genome and exome sequencing as a screening tool. Lessons learned from these studies are discussed, along with technical, ethical, and societal challenges to broad implementation.

scholarly journals TREMORS MIMICKING ATRIAL FLUTTER IN AN ELDERLY LADY

2022 ◽  
Vol 54 (4) ◽  
pp. 370-372
Author(s):  
Intisar Ahmed ◽  
Hunaina Shahab ◽  
Aamir Hameed Khan
Keyword(s):  
Chest Pain ◽  
Sinus Rhythm ◽  
Hospital Stay ◽  
Atrial Flutter ◽  
Normal Sinus Rhythm ◽  
Correct Diagnosis ◽  
Normal Sinus ◽  
Inappropriate Treatment ◽  
History Of

A 77 -year-old lady with history of hypertension and Parkinson`s disease was admitted with cough and fever and diagnosed as pneumonia. On second day of admission, she started having chest pain, initial ECG was interpreted as atrial flutter. When her ECG was reviewed by a cardiologist, ECG features were found to be consistent with artifacts due to tremors. A repeat 12 leads ECG clearly demonstrated normal sinus rhythm and the patient remained completely asymptomatic throughout the hospital stay. Tremor induced artifacts can be mistaken for arrhythmias. Correct diagnosis is important, in order to avoid inappropriate treatment and unnecessary interventions.

Sign in / Sign up

Export Citation Format

Share Document