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 A man with a worrying potassium deficiency

2014 ◽  
Vol 2014 ◽  
Author(s):  
A Tabasum ◽  
C Shute ◽  
D Datta ◽  
L George
Keyword(s):  
Metabolic Alkalosis ◽  
Clinical Suspicion ◽  
Older Age ◽  
List Type ◽  
Slc12a3 Gene ◽  
Clinical Presentations ◽  
Renal Tubular Disorder ◽  
Long Term Prognosis ◽  
Renal Tubular

Summary Hypokalaemia may present as muscle cramps and Cardiac arrhythmias. This is a condition commonly encountered by endocrinologists and general physicians alike. Herein, we report the case of a 43-year-old gentleman admitted with hypokalaemia, who following subsequent investigations was found to have Gitelman's syndrome (GS). This rare, inherited, autosomal recessive renal tubular disorder is associated with genetic mutations in the thiazide-sensitive sodium chloride co-transporter and magnesium channels in the distal convoluted tubule. Patients with GS typically presents at an older age, and a spectrum of clinical presentations exists, from being asymptomatic to predominant muscular symptoms. Clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia. Treatment of GS consists of long-term potassium and magnesium salt replacement. In general, the long-term prognosis in terms of preserved renal function and life expectancy is excellent. Herein, we discuss the biochemical imbalance in the aetiology of GS, and the case report highlights the need for further investigations in patients with recurrent hypokalaemic episodes. Learning points Recurrent hypokalaemia with no obvious cause warrants investigation for hereditary renal tubulopathies. GS is the most common inherited renal tubulopathy with a prevalence of 25 per million people. GS typically presents at an older age and clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia. Confirmation of diagnosis is by molecular analysis for mutation in the SLC12A3 gene.

scholarly journals Rare Variant of Bartter Syndrome with Sensorineural Deafness

2016 ◽  
Vol 35 (3) ◽  
pp. 293-294
Author(s):  
Rajesh Kumar ◽  
Pankaj Kumar ◽  
Manoj Kumar
Keyword(s):  
Blood Pressure ◽  
Sodium Chloride ◽  
Rare Variant ◽  
Metabolic Alkalosis ◽  
Sensorineural Deafness ◽  
Bartter Syndrome ◽  
Normal Blood ◽  
Normal Blood Pressure ◽  
Renal Tubular Disorder ◽  
Renal Tubular

Bartter syndrome is an inherited renal tubular disorder characterized by hypokalemia, hypochloremic metabolic alkalosis, hyperreninemia, hyper-prostaglandinism, normal blood pressure, with increased urinary loss of sodium, chloride, potassium, calcium and prostaglandins. There are five known type of Bartter syndrome, out of which type 4 and 5 are very rare. We are presenting here a case of Bartter syndrome with sensorineural hearing loss.J Nepal Paediatr Soc 2015;35(3):293-294.

scholarly journals Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Gianluca Vergine ◽  
Elena Fabbri ◽  
Annalisa Pedini ◽  
Silvana Tedeschi ◽  
Niccolò Borsa
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Metabolic Alkalosis ◽  
Phenotypic Variability ◽  
Bartter Syndrome ◽  
Syndrome Type ◽  
Renal Tubular Disorder ◽  
Renal Tubular ◽  
Genetically Determined

Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

scholarly journals Bartter Syndrome in Children; A Cause of Severe Hypokalemic Metabolic Alkalosis: Clinical Case Report and Literature Review

2020 ◽  
pp. 1-7
Author(s):  
A. Radi ◽  
M. Akhrif ◽  
M. Kmari ◽  
A. Ourrai ◽  
A. Hassani ◽  
...  
Keyword(s):  
Metabolic Alkalosis ◽  
Clinical Case ◽  
Male Infant ◽  
High Plasma ◽  
Bartter Syndrome ◽  
Thick Ascending Limb ◽  
Triangular Face ◽  
Renal Tubular Disorder ◽  
Dysmorphic Syndrome ◽  
Renal Tubular

Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle. It characterized by urinary loss of sodium, potassium, and chloride; hypokalemic metabolic alkalosis; normal blood pressure, high plasma levels of renin and aldosterone. There is phenotypical and genetic variability of Bartter syndrome since were identified five genes responsible for five different forms of Bartter syndrome. The objective of this work is to report a clinical case to study the pathophysiological, clinical, biological and therapeutic features of this syndrome. Materials and Methods: We reported a case of 04-month-old male infant admitted for acute dehydration secondary to polyuro-polydipsia syndrome and vomiting. In clinical presentation the patient had a dysmorphic syndrome with triangular face, protruding ears and flattened nasal root. Laboratory tests revealed hypokalemia, hyponatremia, metabolic alkalosis and hypercalciuria. Treatment with indomethacin was started at 1 mg/kg per day with favorable outcome.

scholarly journals SUN-LB133 Analysis of Clinical Characteristics and Gene Mutation in Four Cases of Gitelman Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Bin Yao
Keyword(s):  
Gene Mutation ◽  
Metabolic Alkalosis ◽  
Clinical Characteristics ◽  
Gene Mutations ◽  
Gitelman Syndrome ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Slc12a3 Gene ◽  
Renal Tubular Disorder ◽  
Renal Tubular

Abstract Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by renal salt wasting with secondary hyperreninemia and hyperaldosteronism, chronic hypokalemia with renal K wasting and metabolic alkalosis, and hypomagnesemia, and hypocalciuria. GS was found to be caused by mutations in SLC12A3 encoding the thiazide-sensitive sodium chloride cotransporter (NCCT) on the apical membrane of distal convoluted tubule. The prevalence worldwide is estimated at approximately 1:40,000, making it one of the most frequent inherited renal tubular disorders. To date, over 400 mutations scattered throughout SLC12A3 have been identified in GS patients. The majority of patients are compound heterozygous for SLC12A3 mutations, but a significant number of GS patients are found to carry only a single SLC12A3 mutation. The type of the SLC12A3 mutation may be a determinant factor in the severity of GS. The purpose of this study is to analyze clinical characteristics and gene mutation in four cases of GS. Methods: Four patients with closely resembling Gitelman syndrome was selected. Results: Six SLCl2A3 gene mutations were found in these four patients. There were one SLCl2A3 homozygous mutation in case 1 and case 3, and two SLCl2A3 heterozygous mutations in case 2 and case 4, respectively. This six gene mutations include missense mutations, frameshift mutations, and nonsense mutations. Four patients were diagnosed with Gitelman syndrome. Case 4 is the most severe with severe hypokalemia, accompanied by ventricular arrhythmias, which may be related to the presence of two SLC12A3 gene mutations in the patient. Conclusions: Four patients in this study were diagnosed with Gitelman syndrome based on their clinical characteristics and genetic testing results. For patients with hyperreninemia and hyperaldosteronism, chronic hypokalemia with renal K wasting and metabolic alkalosis, and hypomagnesemia, and hypocalciuria need to exclude Gitelman syndrome. Key words: Gitelmen Syndrome, Mutations, SlC12A3 gene

scholarly journals Long – term effect of nephrocalcinosis on renal function and body growth index in children

2020 ◽  
Vol 4 (4) ◽  
Author(s):  
Thu Hương Nguyễn
Keyword(s):  
Renal Tubular Acidosis ◽  
Clinical Signs ◽  
Case Series ◽  
Growth Index ◽  
Bartter Syndrome ◽  
Long Term Effect ◽  
Sterile Pyuria ◽  
Renal Tubular

Aims:  To evaluate effect of NC on growth index, kidney function and its etiology  of children at National Children’s Hospital. Methods: A case series prospective study,34 patients from 1/07/2013 to 30/06/2019. Results: 58,8% cases were males. The most common symptoms were failure to develop heightand weight for 64,7% and 73,5%, respectively. Ultrasound examinations reveal a higher degree, stage 2b and 3 were the most frequent according to Hoyer’s grading. Mean GFR was 101,2 ± 27,5 ml/min/1,73 m2 in presentation.There were 35,3% patients with hypercalciuria and 38,2% cases had sterile pyuria. During a median follow – up of 30 months in 24 patients, growth index improved more than -2SD in 60%,mean GFR 105,2 ± 22 ml/min/1,73 m2 in follow - up.  The most common leading cause to NC was renal tubular acidosis in 50% followed by primary hypercalciuria and the cause of  NC remained unknown (14,7%). Other causes included vitamin D excess, bartter syndrome, nephrocalcinosis - hypercalciuria -hypomagiemia, hypophosphomia ricket. Conclusions:nephrocalcinosis is a rare disease, and clinical signs are atypical.Growth retardation was the most common clinical manifestation andthe most popular cause of this condition in our study is renal tubular acidosis. There was significant increase in height and weight from the first to last observation. GFR remained stable within a long - term.  

Possible reason for preferential damage to renal tubular epithelial cells evoked by amphotericin B.

1996 ◽  
Vol 40 (5) ◽  
pp. 1116-1120 ◽  
Author(s):  
I Walev ◽  
S Bhakdi
Keyword(s):  
Epithelial Cells ◽  
Amphotericin B ◽  
Important Determinant ◽  
Major Complication ◽  
Toxic Action ◽  
Tubular Epithelial Cells ◽  
Renal Tubular Epithelial Cells ◽  
Recovery Mechanisms ◽  
Renal Tubular

An important determinant of nephrotoxicity, which is the major complication of long-term amphotericin B treatment, is dysfunction of distal tubular epithelial cells. The underlying cause for this rather selective damage to the cells is unknown. In the present investigation, it was shown that kidney epithelial cells were initially damaged by amphotericin B at concentrations of 2.5 to 10 micrograms/ml, as demonstrable by a dramatic drop in cellular K+ levels. Cells could recover from the initial toxic action of the polyene if they were kept in medium of neutral pH, and cellular K+ levels returned to normal after 6 h. However, the recovery mechanisms failed at lower pHs of 5.6 to 6.0. At low pHs, cells became progressively depleted of ATP; they leaked lactate dehydrogenase and became irreversibly damaged after approximately 6 h. The possibility that the low pH characteristic of the distal tubulus lumen renders the renal epithelial cells particularly vulnerable to the toxic action of amphotericin B is raised. The concept is in line with an earlier report that alkalization ameliorates amphotericin B nephrotoxicity in rats.

scholarly journals Long-term follow-up of patients with Bartter syndrome type I and II

2010 ◽  
Vol 25 (9) ◽  
pp. 2976-2981 ◽  
Author(s):  
E. Puricelli ◽  
A. Bettinelli ◽  
N. Borsa ◽  
F. Sironi ◽  
C. Mattiello ◽  
...  
Keyword(s):  
Bartter Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Long Term Follow Up

scholarly journals BAFF signaling drives interstitial transformation of mouse renal tubular epithelial cells in a Pin1-dependent manner

2021 ◽  
Author(s):  
Haiyan Xu ◽  
Dan Song ◽  
Renfang Xu ◽  
Xiaozhou He
Keyword(s):  
Flow Cytometry ◽  
Epithelial Cells ◽  
Biological Activities ◽  
High Dose ◽  
Dependent Manner ◽  
Tubular Epithelial Cells ◽  
Renal Tubular Epithelial Cells ◽  
Aberrant Expression ◽  
Renal Tubular

AbstractAberrant expression of B cell–activating factor belonging to TNF superfamily (BAFF) and its receptors results in abnormal biological activities in hematopoietic and non-hematopoietic cells and is closely associated with the occurrence and development of various diseases. However, the biological significance and potential mechanisms underlying BAFF signaling in renal tubular epithelial cells (RTECs) remain unknown. This study aimed to investigate the biological role of BAFF signaling in RTECs. Mice primary RTECs were applied. The proliferation status and apoptotic rates were examined by MTS assay and flow cytometry, respectively. The expression of BAFF and its receptors was analyzed via flow cytometry and sodium ion transport function, and cytokeratin-18 expression was detected through immunofluorescence staining. In addition, Pin1 was knocked down via siRNA and its expression was assessed through reverse transcription PCR. Lastly, western blotting was performed to analyze E-cadherin, ɑ-SMA, and Pin1 expression. Results suggested that BAFF-R was significantly upregulated upon IFN-γ stimulation, and enhancement of BAFF signaling promoted cell survival and reduced their apoptotic rate, while simultaneously reducing the epithelial phenotype and promoting the interstitial transformation of cells. Furthermore, Pin1 was significantly increased, along with the upregulation of BAFF signaling in the RTECs, and participated in interstitial transformation induced by BAFF signaling. Collectively, the present results elucidate the potential mechanism of loss of normal function of RTECs under long-term high dose of BAFF stimulation provides a potential therapeutic target for renal interstitial fibrosis, and underlining mechanisms of shortening of long-term outcomes of kidney allografts via augmenting of BAFF signaling.

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.

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