keyword
MENU ▼
Read by QxMD icon Read
search

Pseudohypoaldosteronism

keyword
https://www.readbyqxmd.com/read/27900368/whole-exome-sequencing-reveals-an-inherited-r566x-mutation-of-the-epithelial-sodium-channel-%C3%AE-subunit-in-a-case-of-early-onset-phenotype-of-liddle-syndrome
#1
Linda M Polfus, Eric Boerwinkle, Richard A Gibbs, Ginger Metcalf, Donna Muzny, Narayanan Veeraraghavan, Megan Grove, Sanjay Shete, Stephanie Wallace, Dianna Milewicz, Neil Hanchard, James R Lupski, Syed Shahrukh Hashmi, Monesha Gupta-Malhotra
To comprehensively evaluate a European-American child with severe hypertension, whole-exome sequencing (WES) was performed on the child and parents, which identified causal variation of the proband's early-onset disease. The proband's hypertension was resistant to treatment, requiring a multiple drug regimen including amiloride, spironolactone, and hydrochlorothiazide. We suspected a monogenic form of hypertension because of the persistent hypokalemia with low plasma levels of renin and aldosterone. To address this, we focused on rare functional variants and indels, and performed gene-based tests incorporating linkage scores and allele frequency and filtered on deleterious functional mutations...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27882355/cullin-3-mutation-causes-arterial-stiffness-and-hypertension-through-a-vascular-smooth-muscle-mechanism
#2
Larry N Agbor, Stella-Rita C Ibeawuchi, Chunyan Hu, Jing Wu, Deborah R Davis, Henry L Keen, Frederick W Quelle, Curt D Sigmund
Cullin-3 (CUL3) mutations (CUL3Δ9) were previously identified in hypertensive patients with pseudohypoaldosteronism type-II (PHAII), but the mechanism causing hypertension and whether this is driven by renal tubular or extratubular mechanisms remains unknown. We report that selective expression of CUL3Δ9 in smooth muscle acts by interfering with expression and function of endogenous CUL3, resulting in impaired turnover of the CUL3 substrate RhoA, increased RhoA activity, and augmented RhoA/Rho kinase signaling...
November 17, 2016: JCI Insight
https://www.readbyqxmd.com/read/27780983/a-novel-mutation-in-the-human-mineralocorticoid-receptor-gene-in-a-japanese-family-with-autosomal-dominant-pseudohypoaldosteronism-type-1
#3
Yoshimi Nishizaki, Makoto Hiura, Hidetoshi Sato, Yohei Ogawa, Akihiko Saitoh, Keisuke Nagasaki
No abstract text is available yet for this article.
October 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27780982/a-patient-with-pseudohypoaldosteronism-type-ii-complicated-by-congenital-hypopituitarism-carrying-a-klhl3-mutation
#4
Marie Mitani, Munehiro Furuichi, Satoshi Narumi, Tomonobu Hasegawa, Motoko Chiga, Shinichi Uchida, Seiji Sato
Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4, WNK1, KLHL3, and CUL3) are known to cause PHA II. We report a patient with PHA II carrying a KLHL3 mutation, who also had congenital hypopituitarism. The patient, a 3-yr-old boy, experienced loss of consciousness at age 10 mo. He exhibited growth failure, hypertension, hyperkalemia, and metabolic acidosis. We diagnosed him as having PHA II because he had low plasma renin activity with normal plasma aldosterone level and a low transtubular potassium gradient...
October 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27727489/phosphorylation-of-klhl3-at-serine-433-impairs-its-interaction-with-the-acidic-motif-of-wnk4-a-molecular-dynamics-study
#5
Lingyun Wang, Ji-Bin Peng
Interaction between the acidic motif (AM) of protein kinase WNK4 and the Kelch domain of KLHL3 are involved in the pathogenesis of pseudohypoaldosteronism type II, a hereditary form of hypertension. This interaction is disrupted by some disease-causing mutations in either WNK4 or KLHL3, or by angiotensin II- and insulin-induced phosphorylation of KLHL3 at serine 433, which is also a site frequently mutated in patients. However, the mechanism by which this phosphorylation disrupts the interaction is unclear...
October 11, 2016: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/27725360/a-novel-frameshift-mutation-in-nr3c2-leads-to-decreased-expression-of-mineralocorticoid-receptor-a-family-with-renal-pseudohypoaldosteronism-type-1
#6
Yuki Kawashima Sonoyama, Toshihiro Tajima, Masanobu Fujimoto, Akiko Hasegawa, Naoki Miyahara, Rei Nishimura, Yuichiro Hashida, Atsushi Hayashi, Keiichi Hanaki, Susumu Kanzaki
Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease characterized by resistance to aldosterone, and the renal form of PHA1 is associated with heterozygous inactivating mutations in NR3C2, which encodes mineralocorticoid receptor (MR). Here we report a case of renal PHA1 due to a novel frameshift mutation in NR3C2. A 10-day-old Japanese male infant, born at 39 weeks gestation (birth weight, 2,946 g), was admitted to our hospital because of lethargy and vomiting, with a 6.7% weight loss since birth...
October 5, 2016: Endocrine Journal
https://www.readbyqxmd.com/read/27651040/severe-systemic-type-1-pseudohypoaldosteronism-5-years-of-evolution
#7
Maria Miguel Gomes, Sofia Martins, Olinda Marques, Nicole da Silva, Ana Antunes
No abstract text is available yet for this article.
November 2016: Endocrinología y Nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición
https://www.readbyqxmd.com/read/27639857/hyperkalemia-in-young-children-blood-pressure-checked
#8
Richard Hollander, Geert Mortier, Koen van Hoeck
: Hyperkalemia in young children is a rare phenomenon and in many cases caused by hemolysis in the specimen due to difficulties in obtaining a sample. However, hyperkalemia can also be a sign of a rare Mendelian syndrome known as familial hyperkalemic hypertension or pseudohypoaldosteronism type II. This disease is characterized by hyperkalemia, hypertension, and mild hyperchloremic metabolic acidosis (with normal anion gap) despite normal glomerular filtration. Full recovery of these abnormalities with thiazide diuretics is essential not to miss the diagnosis of this syndrome...
September 17, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27516976/secondary-or-transient-pseudohypoaldosteronism-associated-with-urinary-tract-anomaly-and-urinary-infection-a-case-report
#9
Vinod Krishnappa, Jonathan H Ross, David N Kenagy, Rupesh Raina
Hyponatremia with hyperkalemia in infancy is a rare presentation, but may be due to aldosterone deficiency or end organ resistance to its action. There are few cases associating this condition with urinary tract infections or anatomic abnormalities that predispose to infection. Clinicians should have a high index of suspicion in diagnosing secondary pseudohypoaldosteronism (PHA) due to its often atypical presentation. We describe ten month-old infant who presented with this condition and was found to have urinary tract infection complicating unilateral urinary tract anomaly, which may have strong association with renal tubular resistance to aldosterone...
September 2016: Urology Case Reports
https://www.readbyqxmd.com/read/27507913/a-novel-nr3c2-mutation-in-a-japanese-patient-with-the-renal-form-of-pseudohypoaldosteronism-type-1
#10
Toshiki Tsunogai, Ichiro Miyata, Saori Kotake, Ryuki Matsuura, Ken Takagi, Hiroyuki Nanba, Noriko Takahata, Toshihiro Tajima, Yasuyuki Wada
No abstract text is available yet for this article.
July 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27490784/paracellular-transport-in-the-collecting-duct
#11
Jianghui Hou
PURPOSE OF REVIEW: The paracellular pathway through the tight junction provides an important route for chloride reabsorption in the collecting duct of the kidney. This review describes recent findings of how defects in paracellular chloride permeation pathway may cause kidney diseases and how such a pathway may be regulated to maintain normal chloride homeostasis. RECENT FINDINGS: The tight junction in the collecting duct expresses two important claudin genes - claudin-4 and claudin-8...
September 2016: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/27485500/congenital-primary-adrenal-insufficiency-and-selective-aldosterone-defects-presenting-as-salt-wasting-in-infancy-a-single-center-10-year-experience
#12
Carla Bizzarri, Nicole Olivini, Stefania Pedicelli, Romana Marini, Germana Giannone, Paola Cambiaso, Marco Cappa
BACKGROUND: Salt-wasting represents a relatively common cause of emergency admission in infants and may result in life-threatening complications. Neonatal kidneys show low glomerular filtration rate and immaturity of the distal nephron leading to reduced ability to concentrate urine. METHODS: A retrospective chart review was conducted for infants hospitalized in a single Institution from 1(st) January 2006 to 31(st) December 2015. The selection criterion was represented by the referral to the Endocrinology Unit for hyponatremia (serum sodium <130 mEq/L) of suspected endocrine origin at admission...
2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27403419/potential-roles-of-amiloride-sensitive-sodium-channels-in-cancer-development
#13
REVIEW
Siguang Xu, Cui Liu, Yana Ma, Hong-Long Ji, Xiumin Li
The ENaC/degenerin ion channel superfamily includes the amiloride-sensitive epithelial sodium channel (ENaC) and acid sensitive ionic channel (ASIC). ENaC is a multimeric ion channel formed by heteromultimeric membrane glycoproteins, which participate in a multitude of biological processes by mediating the transport of sodium (Na(+)) across epithelial tissues such as the kidney, lungs, bladder, and gut. Aberrant ENaC functions contribute to several human disease states including pseudohypoaldosteronism, Liddle syndrome, cystic fibrosis, and salt-sensitive hypertension...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27170636/with-no-lysine-l-wnk1-isoforms-are-negative-regulators-of-the-k-cl-cotransporters
#14
Adriana Mercado, Paola de Los Heros, Zesergio Melo, María Chávez-Canales, Adrián R Murillo-de-Ozores, Erika Moreno, Silvana Bazúa-Valenti, Norma Vázquez, Juliette Hadchouel, Gerardo Gamba
The K(+)-Cl(-) cotransporters (KCC1-KCC4) encompass a branch of the SLC12 family of electroneutral cation-coupled chloride cotransporters that translocate ions out of the cell to regulate various factors, including cell volume and intracellular chloride concentration, among others. L-WNK1 is an ubiquitously expressed kinase that is activated in response to osmotic stress and intracellular chloride depletion, and it is implicated in two distinct hereditary syndromes: the renal disease pseudohypoaldosteronism type II (PHAII) and the neurological disease hereditary sensory neuropathy 2 (HSN2)...
July 1, 2016: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/26989116/renal-tubular-acidosis-type-4-in-pregnancy
#15
Adam Daniel Jakes, Kevin Baynes, Catherine Nelson-Piercy
We describe the clinical course of renal tubular acidosis (RTA) type 4 in pregnancy, which has not been previously published. Renal tubular acidosis type 4 is a condition associated with increased urinary ammonia secondary to hypoaldosteronism or pseudohypoaldosteronism. Pregnancy may worsen the hyperkalaemia and acidosis of renal tubular acidosis type 4, possibly through an antialdosterone effect. We advise regular monitoring of potassium and pH throughout pregnancy to ensure safe levels are maintained.
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/26936515/novel-mutations-in-the-cyp11b2-gene-causing-aldosterone-synthase-deficiency
#16
Niu Li, Juan Li, Yu Ding, Tingting Yu, Yongnian Shen, Qihua Fu, Yiping Shen, Xiaodong Huang, Jian Wang
Aldosterone synthase deficiency (ASD) is a rare, autosomal recessive inherited disease. Mutations in the CYP11B2 gene are responsible for the occurrence of ASD, and the clinical manifestations of ASD vary with age. Affected infants may develop symptoms of mineralocorticoid deficiency, including clinical presentation with frequent vomiting, a variable degree of hyponatremia, hyperkalemia, and metabolic acidosis combined with poor growth, which are easily confused with several other endocrine genopathies, including pseudohypoaldosteronism type 1 and congenital adrenal hyperplasia...
April 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/26904317/pseudohypoaldosteronism-in-a-neonate-presenting-as-life-threatening-hyperkalemia
#17
Najya A Attia, Yousef I Marzouk
Context. Pseudohypoaldosteronism type 1 (PHA1) is a life-threatening disease that causes severe hyperkalemia and cardiac arrest if not treated appropriately or if diagnosis is missed. Objective. To report a case of a newborn with vomiting and lethargy, ultimately diagnosed with pseudohypoaldosteronism. Patient. This case presented to the ED at an age of 14 days in hypovolemic shock. There was a family history of sudden infant death, her sister who was diagnosed with CAH and passed away at 3 months of age despite regular hormone replacement...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/26863326/regulation-of-renal-electrolyte-transport-by-wnk-and-spak-osr1-kinases
#18
Juliette Hadchouel, David H Ellison, Gerardo Gamba
The discovery of four genes responsible for pseudohypoaldosteronism type II, or familial hyperkalemic hypertension, which features arterial hypertension with hyperkalemia and metabolic acidosis, unmasked a complex multiprotein system that regulates electrolyte transport in the distal nephron. Two of these genes encode the serine-threonine kinases WNK1 and WNK4. The other two genes [kelch-like 3 (KLHL3) and cullin 3 (CUL3)] form a RING-type E3-ubiquitin ligase complex that modulates WNK1 and WNK4 abundance. WNKs regulate the activity of the Na(+):Cl(-) cotransporter (NCC), the epithelial sodium channel (ENaC), the renal outer medullary potassium channel (ROMK), and other transport pathways...
2016: Annual Review of Physiology
https://www.readbyqxmd.com/read/26817011/pseudohypoaldosteronism-in-a-newborn-male-with-functional-polymorphisms-in-the-mineralocorticoid-receptor-genes
#19
Hyun Ah Jeong, Yoon Kyoung Park, Yeong Sang Jung, Myung-Hyun Nam, Hyo-Kyoung Nam, Kee Hyoung Lee, Young-Jun Rhie
Hyponatremia and hyperkalemia in infancy can be attributed to various causes, originating from a variety of renal and genetic disorders. Pseudohypoaldosteronism type 1 (PHA1) is one of these disorders, causing mineralocorticoid resistance that results in urinary salt wasting, failure to thrive, metabolic acidosis, and dehydration. PHA1 is heterogeneous in etiology. Inactivating mutations in the NR3C2 gene (4q31.1), which encodes the mineralocorticoid receptor, causes a less severe autosomal dominant form that is restricted to the kidney, while mutations in the amiloride-sensitive epithelial sodium channel gene (alpha subunit=SCNN1A, 12p13; beta subunit=SCNN1b, 16p12...
December 2015: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/26807262/pseudohypoaldosteronism-type-1-due-to-novel-variants-of-scnn1b-gene
#20
Yael R Nobel, Maya B Lodish, Margarita Raygada, Jaydira Del Rivero, Fabio R Faucz, Smita B Abraham, Charalampos Lyssikatos, Elena Belyavskaya, Constantine A Stratakis, Mihail Zilbermint
UNLABELLED: Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) is a rare disorder characterized by sodium wasting, failure to thrive, hyperkalemia, hypovolemia and metabolic acidosis. It is due to mutations in the amiloride-sensitive epithelial sodium channel (ENaC) and is characterized by diminished response to aldosterone. Patients may present with life-threatening hyperkalemia, which must be recognized and appropriately treated. A 32-year-old female was referred to the National Institutes of Health (NIH) for evaluation of hyperkalemia and muscle pain...
2016: Endocrinology, Diabetes & Metabolism Case Reports
keyword
keyword
85263
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

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"