Helping You Find Full Text Journal Articles

Search Results:

'Bartter Syndrome' (1721)


Feb
2018

Inactivated variants in CLCNKB gene encoding the basolateral chloride channel ClC-Kb cause classic Bartter syndrome characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Here we identified two cBS siblings presenting hypokalemia in a Chinese family due to novel compound heterozygous CLCNKB mutations (c.848_850delTCT/c.

View Full Text PDF Listings View primary source full text article PDFs.

Jan
2018

Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome.

View Full Text PDF Listings View primary source full text article PDFs.

Feb
2018

The clinical diagnosis of inherited renal tubulopathies can be challenging as they are rare and characterized by significant phenotypic variability. Advances in sequencing technologies facilitate the establishment of a molecular diagnosis. Therefore, we determined the diagnostic yield of a next generation sequencing panel assessing relevant disease genes in children followed through three national networks with a clinical diagnosis of a renal tubulopathy.

View Full Text PDF Listings View primary source full text article PDFs.


View Full Text PDF Listings View primary source full text article PDFs.

Jan
2018

Comprehensive genetic approaches for diagnosing inherited kidney diseases using next-generation sequencing (NGS) have recently been established. However, even with these approaches, we are still failing to detect gene defects in some patients who appear to suffer from genetic diseases. One of the reasons for this is the difficulty of detecting copy number variations (CNVs) using our current approaches.

View Full Text PDF Listings View primary source full text article PDFs.

Jan
2018

Living with a childhood chronic disease can be challenging, especially if the diagnosis involves a rare condition. This study sought to elucidate how the diagnosis of a rare disease, as compared to a common, chronic condition, may influence maternal experiences of childhood illness. We conducted face-to-face, semi-structured interviews with 26 mothers of children treated in a pediatric hospital in the province of Lecco, Italy.

View Full Text PDF Listings View primary source full text article PDFs.

Nov
2017

Bartter syndrome (BS) has been rarely reported in Chinese population except for a few case reports. This investigation was aimed to analyze the mutations of the causal genes in sixteen Chinese patients with BS, and review their followup and treatment.
Identify mutations by the next generation sequencing and the multiplex ligation-dependent probe amplification (MLPA).

View Full Text PDF Listings View primary source full text article PDFs.

Dec
2017

Renal tubulopathies provide insights into the inner workings of the kidney, yet also pose therapeutic challenges. Because of the central nature of sodium in tubular transport physiology, disorders of sodium handling may affect virtually all aspects of the homeostatic functions of the kidney. Yet, owing to the rarity of these disorders, little clinical evidence regarding treatment exists.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Potassium is the most abundant cation in the intracellular fluid and it plays a vital role in the maintenance of normal cell functions. Thus, potassium homeostasis across the cell membrane, is very critical because a tilt in this balance can result in different diseases that could be life threatening. Both Oxidative stress (OS) and potassium imbalance can cause life threatening health conditions.

View Full Text PDF Listings View primary source full text article PDFs.

Feb
2018

Mutations in thegene, located on the X chromosome, have been recently detected in males with a transient form of antenatal Bartter syndrome or with idiopathic polyhydramnios. The aim of this study is to analyze the proportion of the population with mutations in this gene in a French cohort of patients with antenatal Bartter syndrome.
The French cohort of patients with antenatal Bartter syndrome encompasses 171 families.

View Full Text PDF Listings View primary source full text article PDFs.

Nov
2017

Antenatal Bartter syndrome is a rare condition that can present with different clinical features. These features include early onset maternal polyhydramnios, failure to thrive, prematurity and nephrocalcinosis.We are presenting this 20-day-old girl who had an antenatal history of polyhydramnios.

View Full Text PDF Listings View primary source full text article PDFs.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Unusual Complication of Multidrug Resistant Tuberculosis.

Case Rep Nephrol 2017 18;2017:6835813. Epub 2017 Sep 18.
Prerna Sharma, Ravindra Nath Sahay
Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides. We describe a case of capreomycin induced Bartter-like syndrome with hypocalcemic tetany.
23-year-old female patient presented with carpopedal spasms and tingling sensations in hands.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2017

Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5). The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria. Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios, polyuria, nephrocalcinosis and hypokalemia, which was alleviated after treatment with celecoxib and vitamin D(3).

View Full Text PDF Listings View primary source full text article PDFs.

Sep
2017

Maternal electrolyte imbalance is rarely reported as causative factor of severe perinatal brain injury.
This case outlines a unique maternal and neonatal pseudo-Bartter syndrome presented with metabolic alkalosis and hypochloremia due to maternal severe vomiting.
Neonatal MRI brain revealed extensive brain hemorrhages with porencephalic cysts.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2017

Mutations in the ROMK1 potassium channel gene () cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins, accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria and nephrocalcinosis. This BS type is believed to represent a disorder of the infancy, but not in adulthood. We herein describe a female patient with a remarkably late-onset and mild clinical manifestation of BS II with compound heterozygousmissense mutations, consisting of a novel c.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2017

Early diagnosis of Bartter syndrome (BS) in the neonatal period is a clinical challenge, more so in an extremely low birth weight (ELBW) baby because of the inherent renal immaturity and the associated difficulty in fluid management. However, once a diagnosis is made, the disorder is known to respond well to fluid and electrolyte management, prostaglandin inhibitors, and potassium-sparing diuretics. Herein, we report a case of neonatal BS in a very premature ELBW infant.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2017

Bartter's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Bartter's syndrome is associated with hypercalciuria and nephrocalcinosis. Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect dental enamel.

View Full Text PDF Listings View primary source full text article PDFs.

Sep
2017

Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by inactivating mutations in the123 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. GS is one of the most common inherited renal tubulopathy with a prevalence estimated at about one to ten per 40 000 people.

View Full Text PDF Listings View primary source full text article PDFs.

Sep
2017


View Full Text PDF Listings View primary source full text article PDFs.

Aug
2017

The human ClC-Kb channel plays a key role in exporting chloride ions from the cytosol and is known to be involved in Bartter syndrome type 3 when its permeation capacity is decreased. The ClC-Kb channel has been recently proposed as a potential therapeutic target to treat hypertension. In order to gain new insights into the sequence-structure-function relationships of this channel, to investigate possible impacts of amino-acid substitutions, and to design novel inhibitors, we first built a structural model of the human ClC-Kb channel using comparative modeling strategies.

View Full Text PDF Listings View primary source full text article PDFs.

Aug
2017

Pseudo-Bartter syndrome (PBS) describes an uncommon complication of cystic fibrosis leading to hypochloraemic, hypokalaemic metabolic alkalosis. PBS as the sole manifestation of cystic fibrosis in children is extremely rare and has never been described in patients carrying 5T variant. We report a clinical, biochemical and genetic study of a four year-old boy presenting a pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis.

View Full Text PDF Listings View primary source full text article PDFs.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
2017

We present the case of a 58-year-old woman who developed hypokalaemia and metabolic alkalosis 2 weeks after therapy with colistimethate sodium for the treatment of chronic lower limb ulcer infection by extensively drug-resistant (XDR) Pseudomonas aeruginosa. The metabolic changes observed resembled Bartter syndrome, a group of congenital disorders affecting the distal segments of the renal tubules. The metabolic abnormalities reversed spontaneously 6 days after drug discontinuation.

View Full Text PDF Listings View primary source full text article PDFs.

Jul
2017

The study reports a female neonate with a gestational age of 29weeks and a birth weight of 1 210 g. Ten minutes after birth, the neonate was admitted to the hospital due to shortness of breath. Several days after birth, the neonate presented with hyperglycemia, polyuria, and poor weight gain, accompanied by azotemia, hypochloremic metabolic alkalosis, hypokalemia, and hyponatremia.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2017

Mice lacking distal tubular expression of, the gene encoding the tight junction protein Claudin-10, show enhanced paracellular magnesium and calcium permeability and reduced sodium permeability in the thick ascending limb (TAL), leading to a urine concentrating defect. However, the function of renal Claudin-10 in humans remains undetermined. We identified and characterizedmutations in two patients with a hypokalemic-alkalotic salt-losing nephropathy.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Type II Bartter syndrome is caused by mutations in the renal outer medullary potassium (ROMK) channel, but the molecular mechanisms underlying this disease are poorly defined. To rapidly screen for ROMK function, we developed a yeast expression system and discovered that yeast cells lacking endogenous potassium channels could be rescued by WT ROMK but not by ROMK proteins containing any one of four Bartter mutations. We also found that the mutant proteins were significantly less stable than WT ROMK.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

A 30-year-old man with severe antenatal Bartter syndrome, diagnosed and treated in infancy, developed testicular carcinoma. Despite the known renal complications of cisplatin, this drug was used for his chemotherapy because of its superior antineoplastic effect. Nonsteroidal anti-inflammatory drug administration was continued during cisplatin therapy.

View Full Text PDF Listings View primary source full text article PDFs.

Sep
2017

Pathophysiology of antenatal Bartter's syndrome.

Curr Opin Nephrol Hypertens 2017 Sep;26(5):419-425
Martin Kömhoff, Kamel Laghmani
Antenatal Bartter syndrome (aBS) is a heterogenous disease resulting from defective ion transport in the thick ascending limb of the loop of Henle. Novel insights into the pathophysiology, as well as the recent identification of a novel genetic cause of aBS, merit an update on this topic.
In aBS, severe salt losing is further aggravated by defective salt sensing in the macula densa, where a reduced tubular salt concentration is perceived and glomerular filtration is increased instead of decreased.

View Full Text PDF Listings View primary source full text article PDFs.

View Full Text PDF Listings View primary source full text article PDFs.

Aug
2017

The highly variable phenotypes observed in patients with classic Bartter's syndrome (BS) remain unsatisfactorily explained. The wide spectrum of functional severity of CLCNKB mutations may contribute to the phenotypic variability, and the genotype-phenotype association has not been established. Low-level expression of the human ClC-Kb channel in mammalian cells impedes the functional study of CLCNKB mutations, and the underlying cause is still unclear.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

In the mammalian ear, transduction of sound stimuli is initiated by Kentry through mechano-sensitive channels into inner hair cells. Kentry is driven by a positive endocochlear potential that is maintained by the marginal cell layer of the stria vascularis. This process requires basolateral Kimport by NKCC1 Na-2Cl-Kco-transporters as well as Clefflux through ClC-Ka/barttin or ClC-Kb/barttin channels.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Amelogenesis imperfecta (AI) is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI include hypocalciuria, impaired urinary concentrating ability, and Bartter-like syndrome.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID.

View Full Text PDF Listings View primary source full text article PDFs.

May
2017

A woman with rectal cancer was scheduled for surgery. However, she also had hypokalemia, hyperreninemia, and hyperaldosteronism in the absence of any known predisposing factors or endocrine tumors. She was given intravenous potassium, and her blood abnormalities stabilized after tumor resection.

View Full Text PDF Listings View primary source full text article PDFs.

Aug
2017

Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients withmutations. Functional analyses were performed inoocytes for eight missense and two nonsense mutations.

View Full Text PDF Listings View primary source full text article PDFs.

Apr
2017

Bartter syndrome is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, growth retardation and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following onset of severe polyhydramnios. We studied amniotic fluid aldosterone concentration in cases of Bartter syndrome and in control groups.

View Full Text PDF Listings View primary source full text article PDFs.

Apr
2017

Sensing of extracellular calcium(Ca2+)levels involves the Ca-sensing receptor(CaSR), its downstream signaling molecule Gα11, and the adaptor-related protein complex 2(AP2)that plays a role in clathrin-dependent endocytosis of CaSR. Inactivating mutations in CaSR cause familial hypocalciuric hypercalcemia type 1(FHH1)and neonatal severe hyperparathyroidism(NSHPT), while activating mutations lead to autosomal dominant hypocalcemia type 1(ADH1)and Bartter syndrome type Ⅴ. Recent studies have identified that inactivating mutations in Gα11 and σ-subunit of AP2(AP2σ)also cause FHH, and these conditions have been classified as FHH2 and FHH3, respectively.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Human ClC-K chloride channels are highly attractive targets for drug discovery as they have a variety of important physiological functions and are associated with genetic disorders. These channels are crucial in the kidney as they control chloride reabsorption and water diuresis. In addition, loss-of-function mutations of CLCNKB and BSND genes cause Bartter's syndrome (BS), whereas CLCNKA and CLCNKB gain-of-function polymorphisms predispose to a rare form of salt sensitive hypertension.

View Full Text PDF Listings View primary source full text article PDFs.

Apr
2017

A Comprehensive Guide to the MAGE Family of Ubiquitin Ligases.

J Mol Biol 2017 Apr 11;429(8):1114-1142. Epub 2017 Mar 11.
Anna K Lee, Patrick Ryan Potts
Melanoma antigen (MAGE) genes are conserved in all eukaryotes and encode for proteins sharing a common MAGE homology domain. Although only a single MAGE gene exists in lower eukaryotes, the MAGE family rapidly expanded in eutherians and consists of more than 50 highly conserved genes in humans. A subset of MAGEs initially garnered interest as cancer biomarkers and immunotherapeutic targets due to their antigenic properties and unique expression pattern that is primary restricted to germ cells and aberrantly reactivated in various cancers.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.

View Full Text PDF Listings View primary source full text article PDFs.

View Full Text PDF Listings View primary source full text article PDFs.

Jul
2017

Uncovering the correct diagnosis of chronic hypokalemia with potassium (K) wasting from the kidneys or gut can be fraught with challenges. We identified clinical and laboratory parameters helpful for differentiating the causes of chronic hypokalemia.
Normotensive patients referred to our tertiary academic medical center for the evaluation of chronic hypokalemia were prospectively enrolled over 5 years.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
2016

Neurological disorders in pregnancy can be pregnancy related or can be caused by exacerbation of a pre-existing neurological condition or sometimes may even be detected for the first time during pregnancy in which it might be an incidental finding. The diagnosis and management of the neurological disorders in pregnancy is always a challenging task due to varied symptomatology and risks to the fetus. The evaluation and management should be performed in a stepwise fashion and requires multidisciplinary approach.

View Full Text PDF Listings View primary source full text article PDFs.

Apr
2017

Nephrogenic diabetes insipidus.

Curr Opin Pediatr 2017 Apr;29(2):199-205
D Bockenhauer, Daniel G Bichet
In nephrogenic diabetes insipidus (NDI), the kidney is unable to concentrate urine despite elevated concentrations of the antidiuretic hormone arginine-vasopressin. In congenital NDI, polyuria and polydipsia are present from birth and should be immediately recognized to avoid severe episodes of dehydration. Unfortunately, NDI is still often recognized late after a 'diagnostic odyssey' involving false leads and dangerous treatments.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalaemia), increased blood pH (alkalosis) and normal to low blood pressure. There are three types of Bartter syndrome: neonatal, the classic type and Gitelman syndrome.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Solute Carrier Family 12 member 1 (SLC12A1) gene encodes the sodium-potassium-chloride co-transporter (NKCC2) at the apical membrane of the thick ascending loop of Henle (TAL). Bartter's syndrome (BS) type I is a rare, autosomal recessive, renal tubular disorder associated with mutation of the SLC12A1 gene. Presenting features include: hypokalemic metabolic alkalosis, hypercalciuria and nephrocalcinosis.

View Full Text PDF Listings View primary source full text article PDFs.

Nov
2016

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations inencoding basolateral ClC-Kb. The clinical phenotype of patients withmutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported.

View Full Text PDF Listings View primary source full text article PDFs.

Jan
2017

Bartter syndrome type IV, characterized by salt-losing nephropathies and sensorineural deafness, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB. GJB2 is the primary causative gene for non-syndromic sensorineural deafness and associated with several syndromic sensorineural deafness. Owing to the rarity of Bartter syndrome, only a few mutations have been reported in the abovementioned causative genes.

View Full Text PDF Listings View primary source full text article PDFs.

Back to top