collection
https://read.qxmd.com/read/26554665/a-case-of-severe-osteomalacia-caused-by-tubulointerstitial-nephritis-with-fanconi-syndrome-in-asymptomotic-primary-biliary-cirrhosis
#21
JOURNAL ARTICLE
Shintaro Yamaguchi, Tatsuya Maruyama, Shu Wakino, Hirobumi Tokuyama, Akinori Hashiguchi, Shinichiro Tada, Koichiro Homma, Toshiaki Monkawa, James Thomas, Kazutoshi Miyashita, Isao Kurihara, Tadashi Yoshida, Konosuke Konishi, Koichi Hayashi, Matsuhiko Hayashi, Hiroshi Itoh
BACKGROUND: Primary biliary cirrhosis (PBC) is an immune-mediated chronic cholestatic liver disease, characterized by increased concentrations of serum IgM and the presence of circulating anti-mitochondrial antibodies. Although bone diseases such as osteoporosis or osteodystrophy are commonly associated with PBC, osteomalacia which is caused by abnormal vitamin D metabolism, mineralization defects, and phosphate deficiency has not been recognized as a complication of PBC. CASE PRESENTATION: We report the case of a 49-year-old Japanese woman who complained of multiple fractures...
November 11, 2015: BMC Nephrology
https://read.qxmd.com/read/26537508/adult-presentation-of-bartter-syndrome-type-iv-with-erythrocytosis
#22
JOURNAL ARTICLE
Ita Pfeferman Heilberg, Cláudia Tótoli, Joaquim Tomaz Calado
Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period...
October 2015: Einstein
https://read.qxmd.com/read/26537344/pseudohypoaldosteronism-type-1-and-liddle-s-syndrome-mutations-that-affect-the-single-channel-properties-of-the-epithelial-na-channel
#23
JOURNAL ARTICLE
Nina Boiko, Volodymyr Kucher, James D Stockand
These studies test whether three disease-causing mutations in genes (SCNN1A and SCNN1G) encoding subunits of the epithelial Na(+) channel, ENaC, affect the biophysical and gating properties of this important renal ion channel. The S562P missense mutation in αENaC and the K106_S108delinsN mutation in γENaC are associated with pseudohypoaldosteronism type 1 (PHA1). The N530S missense mutation in γENaC causes Liddle's syndrome. Incorporation of S562P into αENaC and K106_S108N into γENaC resulted in significant decreases in macroscopic ENaC currents...
November 2015: Physiological Reports
https://read.qxmd.com/read/25631355/nkcc2-activity-is-inhibited-by-the-bartter-s-syndrome-type-5-gain-of-function-car-a843e-mutant-in-renal-cells
#24
JOURNAL ARTICLE
Monica Carmosino, Andrea Gerbino, Geoffrey N Hendy, Silvia Torretta, Federica Rizzo, Lucantonio Debellis, Giuseppe Procino, Maria Svelto
BACKGROUND INFORMATION: The gain-of-function A843E mutation of the calcium sensing receptor (CaR) causes Bartter syndrome type 5. Patients carrying this CaR variant show a remarkably reduced renal NaCl reabsorption in the thick ascending limb (TAL) of Henle's loop resulting in renal loss of NaCl in the absence of mutations in renal Na(+) and Cl(-) ion transporters. The molecular mechanisms underlying this clinical phenotype are incompletely understood. We investigated, in human embryonic kidney 293 (HEK 293) cells and porcine kidney epithelial (LLC-PK1) cells, the functional cross-talk of CaR-A843E with the Na(+):K(+):2Cl(-) co-transporter, NKCC2, which provides NaCl reabsorption in the TAL...
April 2015: Biology of the Cell
https://read.qxmd.com/read/26389017/nephrolithiasis-kidney-failure-and-bone-disorders-in-dent-disease-patients-with-and-without-clcn5-mutations
#25
JOURNAL ARTICLE
Franca Anglani, Angela D'Angelo, Luisa Maria Bertizzolo, Enrica Tosetto, Monica Ceol, Daniela Cremasco, Luciana Bonfante, Maria Antonietta Addis, Dorella Del Prete
Dent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes. CLCN5 encodes the electrogenic chloride/proton exchanger ClC-5 which is involved in the tubular reabsorption of albumin and LMW proteins, OCRL encodes the inositol polyphosphate 5-phosphatase, and was initially associated with Lowe syndrome. In approximately 25 % of patients, no CLCN5 and OCRL mutations were detected...
2015: SpringerPlus
https://read.qxmd.com/read/26337818/sildenafil-for-the-treatment-of-congenital-nephrogenic-diabetes-insipidus
#26
JOURNAL ARTICLE
Farahnak Assadi, Fatemeh Ghane Sharbaf
BACKGROUND: Congenital nephrogenic diabetes insipidus (NDI) is characterized by massive polyuria and polydipsia due to defects in the vasopressin-sensitive signaling system expression of the acuaporin-2 (AQP2) water channel of the kidney collecting duct principal cells. Current conventional treatment regimen including hydration, diuretics and nonsteroidal anti-inflammatory drugs can only partially reduce polyuria. Recent experimental studies have suggested that treatment with sildenafil, a selective phosphodiesterase inhibitor, may enhance cyclic guanosine monophosphate (cGMP)-mediated apical trafficking of AQP2 and may be effective in increasing water reabsorption in patients with congenital NDI...
2015: American Journal of Nephrology
https://read.qxmd.com/read/26304834/physiological-functions-and-regulation-of-the-na-h-exchanger-nhe1-in-renal-tubule-epithelial-cells
#27
REVIEW
Patricia G Vallés, Victoria Bocanegra, Andrea Gil Lorenzo, Valeria Victoria Costantino
The sodium-hydrogen exchanger isoform-1 [NHE1] is a ubiquitously expressed plasma membrane protein that plays a central role in intracellular pH and cell volume homeostasis by catalyzing an electroneutral exchange of extracellular sodium and intracellular hydrogen. Outside of this important physiological function, the NHE1 cytosolic tail domain acts as a molecular scaffold regulating cell survival and actin cytoskeleton organization through NHE1-dependent signaling proteins. NHE1 plays main roles in response to physiological stress conditions which in addition to cell shrinkage and acidification, include hypoxia and mechanical stimuli, such as cell stretch...
2015: Kidney & Blood Pressure Research
https://read.qxmd.com/read/26306968/a-case-report-of-gitelman-syndrome-resulting-from-two-novel-mutations-in-slc12a3-gene
#28
JOURNAL ARTICLE
Wojciech Wolyniec, Sonia Kaniuka- Jakubowska, Mato Nagel, Zuzanna Wolyniec, Lukasz Obolonczyk, Renata Swiatkowska-Stodulska, Krzysztof Sworczak, Marcin Renke
INTRODUCTION: Hypokalaemia is a common clinical problem. A potential but commonly overlooked cause of hypokalaemia is Gitelman syndrome. MATERIAL AND METHODS: A 26-year-old man was admitted to the hospital due to syncope with general and muscular weakness and muscle cramps. The patient's history revealed previous recurrent syncope events associated to hypokalaemia with the lowest serum potassium value being 2.6mmol/l. At admission, blood pressure was normal and no changes were found at physical examination...
May 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://read.qxmd.com/read/26217664/a-rare-case-of-congenital-diabetes-insipidus
#29
Tanvi Rege, Srujana Polsani, Belinda Jim
Congenital nephrogenic diabetes insipidus (NDI) is a conformation disease resulting from protein misfolding. Ninety percent of mutations result from the inactivating mutations of the arginine vasopressin receptor 2 (AVPR2) gene transmitted in an X-linked fashion, blocking the response to vasopressin, resulting in the inability to concentrate urine. Clinical features include polyuria, polydispsia, dehydration, and hypernatremia. They are generally more severely in affected males but present variably in females due to skewed inactivation of the X chromosome...
2015: Frontiers in Medicine
https://read.qxmd.com/read/24171002/calcium-unresponsive-hypocalcemic-tetany-gitelman-syndrome-with-hypocalcemia
#30
JOURNAL ARTICLE
Madhav Desai, Praveen Kumar Kolla, P L Venkata Pakki Reddy
Introduction. Gitelman's syndrome (GS) is autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism. It is usually associated with normal serum calcium. We report a patient presented with hypocalcemic tetany, and evaluation showed Gitelman's syndrome with hypocalcemia. Case Report. A 28-year-old woman presented with cramps of the arms, legs, fatigue, and carpal spasms of one week duration. She has history of similar episodes on and off for the past two years...
2013: Case Reports in Medicine
https://read.qxmd.com/read/24204001/mutations-in-pcbd1-cause-hypomagnesemia-and-renal-magnesium-wasting
#31
JOURNAL ARTICLE
Silvia Ferrè, Jeroen H F de Baaij, Patrick Ferreira, Roger Germann, Johannis B C de Klerk, Marla Lavrijsen, Femke van Zeeland, Hanka Venselaar, Leo A J Kluijtmans, Joost G J Hoenderop, René J M Bindels
Mutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (HPABH4D). Until now, HPABH4D has been regarded as a transient and benign neonatal syndrome without complications in adulthood. In our study of three adult patients with homozygous mutations in the PCBD1 gene, two patients were diagnosed with hypomagnesemia and renal Mg(2+) loss, and two patients developed diabetes with characteristics of maturity onset diabetes of the young (MODY), regardless of serum Mg(2+) levels...
March 2014: Journal of the American Society of Nephrology: JASN
https://read.qxmd.com/read/24966690/hypomagnesemia-a-clinical-perspective
#32
REVIEW
Phuong-Chi T Pham, Phuong-Anh T Pham, Son V Pham, Phuong-Truc T Pham, Phuong-Mai T Pham, Phuong-Thu T Pham
Although magnesium is involved in a wide spectrum of vital functions in normal human physiology, the significance of hypomagnesemia and necessity for its treatment are under-recognized and underappreciated in clinical practice. In the current review, we first present an overview of the clinical significance of hypomagnesemia and normal magnesium metabolism, with a focus on renal magnesium handling. Subsequently, we review the literature for both congenital and acquired hypomagnesemic conditions that affect the various steps in normal magnesium metabolism...
2014: International Journal of Nephrology and Renovascular Disease
https://read.qxmd.com/read/25071208/kcnj10-determines-the-expression-of-the-apical-na-cl-cotransporter-ncc-in-the-early-distal-convoluted-tubule-dct1
#33
JOURNAL ARTICLE
Chengbiao Zhang, Lijun Wang, Junhui Zhang, Xiao-Tong Su, Dao-Hong Lin, Ute I Scholl, Gerhard Giebisch, Richard P Lifton, Wen-Hui Wang
The renal phenotype induced by loss-of-function mutations of inwardly rectifying potassium channel (Kir), Kcnj10 (Kir4.1), includes salt wasting, hypomagnesemia, metabolic alkalosis and hypokalemia. However, the mechanism by which Kir.4.1 mutations cause the tubulopathy is not completely understood. Here we demonstrate that Kcnj10 is a main contributor to the basolateral K conductance in the early distal convoluted tubule (DCT1) and determines the expression of the apical Na-Cl cotransporter (NCC) in the DCT...
August 12, 2014: Proceedings of the National Academy of Sciences of the United States of America
https://read.qxmd.com/read/25182135/clinical-utility-gene-card-for-familial-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis-with-without-severe-ocular-involvement
#34
JOURNAL ARTICLE
Félix Claverie-Martín, Rosa Vargas-Poussou, Dominik Müller, Víctor García-Nieto
No abstract text is available yet for this article.
June 2015: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/25319473/the-kidney-tight-junction-review
#35
REVIEW
Jianghui Hou
The tight junction is an important subcellular organelle which plays a vital role in epithelial barrier function. Claudin, as the integral membrane component of tight junctions, creates a paracellular transport pathway for various ions to be reabsorbed by the kidneys. This review summarizes advances in claudin structure, function and pathophysiology in kidney diseases. Different claudin species confer selective paracellular permeability to each of three major renal tubular segments: the proximal tubule, the thick ascending limb of Henle's loop and the distal nephron...
December 2014: International Journal of Molecular Medicine
https://read.qxmd.com/read/25589264/distal-convoluted-tubule
#36
REVIEW
James A McCormick, David H Ellison
The distal convoluted tubule (DCT) is a short nephron segment, interposed between the macula densa and collecting duct. Even though it is short, it plays a key role in regulating extracellular fluid volume and electrolyte homeostasis. DCT cells are rich in mitochondria, and possess the highest density of Na+/K+-ATPase along the nephron, where it is expressed on the highly amplified basolateral membranes. DCT cells are largely water impermeable, and reabsorb sodium and chloride across the apical membrane via electroneurtral pathways...
January 2015: Comprehensive Physiology
https://read.qxmd.com/read/25964887/gitelman-s-syndrome-complicated-by-mild-renal-insufficiency-and-high-anion-gap-acidosis-a-rare-presentation-in-a-young-female
#37
JOURNAL ARTICLE
Nazrul Hassan Jafry, Ejaz Ahmed, Muhammed Mubarak
BACKGROUND: Gitelman's syndrome (GS) is a rare autosomal recessive renal tubular disorder that is characterized by episodic clinical manifestations and persistent biochemical abnormalities. The disorder manifests in adolescent or adult age and is characterized by transient episodes of muscle weakness and tetany. Its diagnosis requires a high index of suspicion and skillful interpretation of laboratory investigations. CASE PRESENTATION: We herein present a case of a 20-year-old female patient who presented with generalized muscle weakness and mild renal insufficiency...
April 2015: Journal of Nephropathology
https://read.qxmd.com/read/26064102/hypomagnesemia-induced-by-long-term-treatment-with-proton-pump-inhibitors
#38
REVIEW
Simone Janett, Pietro Camozzi, Gabriëlla G A M Peeters, Sebastiano A G Lava, Giacomo D Simonetti, Barbara Goeggel Simonetti, Mario G Bianchetti, Gregorio P Milani
In 2006, hypomagnesemia was first described as a complication of proton-pump inhibitors. To address this issue, we systematically reviewed the literature. Hypomagnesemia, mostly associated with hypocalcemic hypoparathyroidism and hypokalemia, was reported in 64 individuals on long-term proton-pump inhibitors. Hypomagnesemia recurred following replacement of one proton-pump inhibitor with another but not with a histamine type-2 receptor antagonist. The association between proton-pump inhibitors and magnesium metabolism was addressed in 14 case-control, cross-sectional studies...
2015: Gastroenterology Research and Practice
https://read.qxmd.com/read/26251718/hydrochlorothiazide-reduces-urinary-calcium-excretion-in-a-child-with-lowe-syndrome
#39
JOURNAL ARTICLE
Lavjay Butani
There is a growing recognition that children with Lowe syndrome are at risk of nephrocalcinosis and nephrolithiasis from hypercalciuria. Increased fluid intake and correction of metabolic acidosis have remained the focus for intervention but are not always successful. Thiazide diuretics, which reduce urinary calcium excretion, have not been used in these children, due to concerns that (i) they may not work as a result of the underlying tubular abnormalities and (ii) their risk may outweigh the potential benefits they have to offer...
August 2015: Clinical Kidney Journal
https://read.qxmd.com/read/25852908/dent-wrong-disease-and-other-rare-causes-of-the-fanconi-syndrome
#40
REVIEW
Alejandro Solano, Susie Q Lew, Todd S Ing
Dent-Wrong disease, an X-linked recessive disorder of the proximal tubules, presents with hypercalciuria, nephrocalcinosis, nephrolithiasis, renal insufficiency, low-molecular-weight proteinuria, rickets and/or osteomalacia. Dent and Friedman initially characterized the disorder in 1964 following studies of two patients with rickets who presented with hypercalciuria, hyperphosphaturia, proteinuria and aminoaciduria. Since then, extensive investigation identified two genetic mutations (CLCN5 and OCRL1) to be associated with Dent-Wrong disease...
August 2014: Clinical Kidney Journal
label_collection
label_collection
2037
2
3
2015-08-06 14:22:27
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.