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https://www.readbyqxmd.com/read/29092859/urinary-bladder-hypertrophy-is-susceptible-in-male-but-protected-in-female-romk-bartter-s-mouse
#1
Jun-Mo Kim, Shuhua Xu, Xiaoyun Guo, Haiyan Hu, Ke Dong, Tong Wang
The renal outer medullary potassium channel (ROMK; Kir1.1) plays an important role in Na(+) and K(+) homeostasis. ROMK knockout mice (KO) show a similar phenotype to Bartter's syndrome of salt wasting and dehydration due to reduced Na-2Cl-K-cotransporter activity but not in ROMK1 KO. ROMK KO mice also show hydronephrosis; however, the mechanism of this phenotype has not been understood. We have previously demonstrated a gender-sex difference in hydronephrosis and PGE2 production in ROMK KO mouse. In this study we compared the gender-sex difference in bladder hypertrophy and hydronephrosis in ROMK KO mice...
November 1, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/29075541/unusual-complication-of-multidrug-resistant-tuberculosis
#2
Prerna Sharma, Ravindra Nath Sahay
INTRODUCTION: 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. CASE REPORT: 23-year-old female patient presented with carpopedal spasms and tingling sensations in hands. Patient was being treated with capreomycin for two months for tuberculosis. On further investigation, hypocalcemia, hyponatremia, hypomagnesemia, hypokalemia, and hypochloremic metabolic alkalosis were noted...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29036958/-a-clinical-and-hereditary-analysis-of-novel-complex-heterozygous-kcnj1-mutation-in-a-bartter-syndrome-type-%C3%A2-patient
#3
X Y Li, Y Jiang, L J Xu, L Duan, X Y Peng, L M Chen, W B Xia, X P Xing
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). DNA sequencing identified compound heterozygous KCNJ1 gene mutations, c. 931C >T (p...
October 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28984259/maternal-pseudo-bartter-syndrome-associated-with-severe-perinatal-brain-injury
#4
Shrenik Vora, Thowfique Ibrahim, Victor Samuel Rajadurai
BACKGROUND: Maternal electrolyte imbalance is rarely reported as causative factor of severe perinatal brain injury. CASE CHARACTERISTICS: This case outlines a unique maternal and neonatal pseudo-Bartter syndrome presented with metabolic alkalosis and hypochloremia due to maternal severe vomiting. OBSERVATION: Neonatal MRI brain revealed extensive brain hemorrhages with porencephalic cysts. Subsequent investigation workup points towards maternal severe metabolic alkalosis as its cause...
September 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28979772/late-onset-bartter-syndrome-type-ii
#5
Benjamin Gollasch, Yoland-Marie Anistan, Sima Canaan-Kühl, Maik Gollasch
Mutations in the ROMK1 potassium channel gene (KCNJ1) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins in utero, 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 heterozygous KCNJ1 missense mutations, consisting of a novel c...
October 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28937079/neonatal-bartter-syndrome-in-an-extremely-low-birth-weight-baby
#6
Deeparaj Hegde, Jayashree Mondkar, Nitinkumar Abdagire
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.
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28904439/association-of-amelogenesis-imperfecta-and-bartter-s-syndrome
#7
A C V Kumar, V Alekya, M S V V Krishna, K Alekya, M Aruna, M H K Reddy, B Sangeetha, R Ram, V S Kumar
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. AI could be part of several syndromes. The enamel renal syndrome is the association of AI and nephrocalcinosis. We report two patients of AI with Bartter's syndrome.
September 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28874045/anion-selective-cholesterol-decorated-macrocyclic-transmembrane-ion-carriers
#8
Harekrushna Behera, Nandita Madhavan
Anion transporters play a vital role in cellular processes and their dysregulation leads to a range of diseases such as cystic fibrosis, Bartter's syndrome and epilepsy. Synthetic chloride transporters are known to induce apoptosis in cancer cell lines. Herein, we report triamide macrocycles that are easily synthesized and externally functionalized by pendant membrane-permeable groups. Among a variety of chains appended onto the macrocycle scaffold, cholesterol is found to be the best with an EC50 value of 0...
September 8, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28870047/-expert-consensus-for-the-diagnosis-and-treatment-of-patients-with-gitelman-syndrome
#9
(no author information available yet)
Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 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. The prevalence of GS is even higher in Asia than other countries. The majority of GS patients present mild and nonspecific symptoms during adolescence or adulthood...
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28870038/-gene-analysis-in-a-family-with-adult-onset-bartter-syndrome-type-2
#10
Y Han, F Wang, Y G Wang
No abstract text is available yet for this article.
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28796541/inflammatory-myo-fibroblastic-tumor-of-the-lung-a-rare-primary-lung-cancer
#11
Krishna Prasad Joshi, Upendra Kaphle, Matthew A Steliga, Thaddeus Bartter, Priya Priyambada, Shahanawaz Jiwani
No abstract text is available yet for this article.
August 10, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28775266/in-silico-model-of-the-human-clc-kb-chloride-channel-pore-mapping-biostructural-pathology-and-drug-screening
#12
Maxime Louet, Sara Bitam, Naziha Bakouh, Yohan Bignon, Gabrielle Planelles, David Lagorce, Maria A Miteva, Dominique Eladari, Jacques Teulon, Bruno O Villoutreix
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...
August 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28751295/pseudo-bartter-syndrome-as-the-sole-manifestation-of-cystic-fibrosis-in-a-child-with-711-g-t-ivs8-5t-mutation-a-new-face-of-an-old-disease
#13
Faten Tinsa, Sondes Hadj Fredj, Imen Bel Hadj, Fatma Khalsi, Sonia Abdelhak, Khadija Boussetta, Taieb Messaoud
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. All 27 exons and the flanking intron regions of the CFTR gene were analysed by PCR and direct sequencing...
August 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28699114/reversible-hypokalemia-and-bartter-like-syndrome-during-prolonged-systemic-therapy-with-colistimethate-sodium-in-an-adult-patient
#14
Tarek Kamal Eldin, Grazia Tosone, Alfredo Capuano, Raffaele Orlando
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. Acquired forms of Bartter syndrome have been reported during courses of antibiotic therapy; however, to our knowledge, this is the first documented case associated with colistimethate therapy in an adult...
December 2017: Drug Safety—Case Reports
https://www.readbyqxmd.com/read/28697837/-poor-weight-gain-recurrent-metabolic-alkalosis-and-hypokalemia-in-a-neonate
#15
Miao Qian, Shu-Ping Han, Zhang-Bing Yu, Xiao-Hui Chen
The study reports a female neonate with a gestational age of 29(+2) weeks 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. Laboratory examinations showed elevated levels of aldosterone, renin, and angiotensin II. Gene detection revealed SLC12A1 gene mutation...
July 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28674042/a-novel-hypokalemic-alkalotic-salt-losing-tubulopathy-in-patients-with-cldn10-mutations
#16
Ernie M H F Bongers, Luke M Shelton, Susanne Milatz, Sjoerd Verkaart, Anneke P Bech, Jeroen Schoots, Elisabeth A M Cornelissen, Markus Bleich, Joost G J Hoenderop, Jack F M Wetzels, Dorien Lugtenberg, Tom Nijenhuis
Mice lacking distal tubular expression of CLDN10, 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 characterized CLDN10 mutations in two patients with a hypokalemic-alkalotic salt-losing nephropathy. The first patient was diagnosed with Bartter syndrome (BS) >30 years ago...
October 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28630040/endoplasmic-reticulum-associated-degradation-of-the-renal-potassium-channel-romk-leads-to-type-ii-bartter-syndrome
#17
Brighid M O'Donnell, Timothy D Mackie, Arohan R Subramanya, Jeffrey L Brodsky
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. However, their degradation was slowed in the presence of a proteasome inhibitor or when yeast cells contained mutations in the CDC48 or SSA1 gene, which is required for endoplasmic reticulum (ER)-associated degradation (ERAD)...
August 4, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28620493/a-bronchoscopic-approach-to-benign-subglottic-stenosis
#18
Tuhina Raman, Kshitij Chatterjee, Bashar N Alzghoul, Ayoub A Innabi, Ozlem Tulunay, Thaddeus Bartter, Nikhil K Meena
OBJECTIVES: Subglottic stenosis is an abnormal narrowing of the tracheal lumen at the level of subglottis (the area in between the vocal cords and the cricoid cartilage). It can cause significant symptoms due to severe attenuation of airflow. We describe our experience in alleviating symptoms by addressing the stenosis using fibreoptic bronchoscopic methods. METHODS: We report all concurrent cases performed between September 2015 and July 2016. We use a combination of balloon dilation, electro-surgery knife to dilate and incise stenotic segments followed by steroid injection to modulate healing...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28612006/cisplatin-therapy-does-not-worsen-renal-function-in-severe-antenatal-bartter-syndrome
#19
Thomas R Welch, David R Shaffer, Darren R Feldman
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. Despite an increase in his oral potassium requirement, renal function was maintained following completion of chemotherapy. In spite of its significant associated nephrotoxicity, cisplatin can be used in patients with severe antenatal Bartter syndrome if required for therapy of malignancy...
May 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28598867/pathophysiology-of-antenatal-bartter-s-syndrome
#20
Martin Kömhoff, Kamel Laghmani
PURPOSE OF REVIEW: 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. RECENT FINDINGS: 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...
September 2017: Current Opinion in Nephrology and Hypertension
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