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Pseudohypoaldosteronism

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https://www.readbyqxmd.com/read/29772605/response-to-letter-by-aaron-hanukoglu-et-al
#1
Ihsan Turan, Ali Kemal Topaloglu, Bilgin Yuksel
We appreciate the valuable comments on our article by Hanukoglu and Hanukoglu. With regard to cutaneous involvement in systemic pseudohypoaldosteronism (sysPHA), we agree with Hanukoglu and Hanukoglu in that these co-occurrences are not rare. Indeed, in our study, three of four patients with sysPHA1 showed skin manifestations. This article is protected by copyright. All rights reserved.
May 17, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29702750/in-systemic-pseudohypoaldosteronism-type-1-skin-manifestations-are-not-rare-and-the-disease-is-not-transient
#2
Aaron Hanukoglu, Israel Hanukoglu
We read with interest the recent paper by Turan et al. (published online April 18, 2018) on eight patients with hypoaldosteronism resulting from biosynthetic defects of aldosterone secretion (3 cases) or aldosterone insensitivity syndromes named as pseudohypoaldosteronism type 1 (PHA) (5 cases).1 In 1991, we described for the first time that PHA type I may appear in two forms with distinct clinical, genetic, and endocrine characteristics.2 These two forms were named as the renal form, and the systemic (multi-system) form of PHA...
April 27, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29582446/molecular-genetic-studies-in-a-case-series-of-isolated-hypoaldosteronism-due-to-biosynthesis-defects-or-aldosterone-resistance
#3
Ihsan Turan, Leman Damla Kotan, Mehmet Tastan, Fatih Gurbuz, Ali Kemal Topaloglu, Bilgin Yuksel
BACKGROUND AND AIM: Hypoaldosteronism is associated with either insufficient aldosterone production or aldosterone resistance (pseudohypoaldosteronism). Patients with aldosterone defects typically present with similar symptoms and findings, which include failure to thrive, vomiting, hyponatremia, hyperkalemia and metabolic acidosis. Accurate diagnosis of these clinical conditions therefore can be challenging. Molecular genetic analyses can help to greatly clarify this complexity. The aim of this study was to obtain an overview of the clinical and genetic characteristics of patients with aldosterone defects due to biosynthesis defects or aldosterone resistance...
March 27, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29564839/-transient-pseudohypoaldosteronism-an-important-differential-diagnosis-to-congenital-adrenal-hyperplasia
#4
Jakob Metz, Marie Sophie Kesper, Barbara Uetz, Stefan Burdach, Katharina Warncke
No abstract text is available yet for this article.
March 21, 2018: Klinische Pädiatrie
https://www.readbyqxmd.com/read/29515305/rare-cause-of-hyperkalemia-in-the-newborn-period-report-of-two-cases-of-pseudohypoaldosteronism-type-1
#5
R Manipriya, B Umamaheswari, A Prakash, N Binu
Pseudohypoaldosteronism (PHA) Type 1 is characterized by mineralocorticoid resistance, manifesting as neonatal salt wasting, hypotension, hyperkalemia, hyponatremia, and metabolic acidosis in spite of elevated aldosterone levels and plasma renin activity. It is important to differentiate children with systemic PHA from renal PHA, as these children are likely to decompensate even with mild symptoms. Here, we report two neonates with PHA that presented to us with multiorgan involvement.
January 2018: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/29511623/a-novel-mutation-in-exon-9-of-cullin-3-gene-contributes-to-aberrant-splicing-in-pseudohypoaldosteronism-type-ii
#6
Leping Shao, Li Cui, Jingru Lu, Yanhua Lang, Irene Bottillo, Xiangzhong Zhao
Pseudohypoaldosteronism type II (PHAII) is a rare renal tubular disease that is inherited in an autosomal dominant manner. Mutations in four genes ( WNK1 , WNK4 , CUL3, and KLHL3 ) have been identified to be responsible for this disease. Cullin 3 (CUL3) and KLHL3 are subunits of Cullin-RING E3 ubiquitin ligase complexes, and the serine-threonine kinases WNK1 and WNK4 are substrates of this ubiquitin ligase. For CUL3 , all mutations associated with PHAII exclusively lead to exon 9 skipping. In this study, we identified a Chinese PHAII kindred caused by a novel synonymous mutation (c...
March 2018: FEBS Open Bio
https://www.readbyqxmd.com/read/29494638/glycogen-synthase-kinase-3%C3%A3-functions-as-a-positive-effector-in-the-wnk-signaling-pathway
#7
Atsushi Sato, Hiroshi Shibuya
The with no lysine (WNK) protein kinase family is conserved among many species. Some mutations in human WNK gene are associated with pseudohypoaldosteronism type II, a form of hypertension, and hereditary sensory and autonomic neuropathy type 2A. In kidney, WNK regulates the activity of STE20/SPS1-related, proline alanine-rich kinase and/or oxidative-stress responsive 1, which in turn regulate ion co-transporters. The misregulation of this pathway is involved in the pathogenesis of pseudohypoaldosteronism type II...
2018: PloS One
https://www.readbyqxmd.com/read/29482694/pseudohypoaldosteronism-type-ii-a-young-girl-presented-with-hypertension-hyperkalemia-and-metabolic-acidosis
#8
Gul Hassan Sethar, Aisha Almoghawi, Nargis Khan, Wehad Altourah, Najat Mohammed Ashour
Pseudohypoaldosteronism (PHA) type II is an extremely rare disorder which presents with hypertension, hyperkalemia, and normal anion gap metabolic acidosis. PHA II is also known as familial hyperkalemic hypertension, Gordon syndrome, and chloride shunt syndrome. PHA II is an autosomal dominant disorder and is caused by mutation in WNK1, WNK4, CULLIN3, KLHL3, OSR, SPAK gene. The expression of these proteins is limited to the distal convoluted tube and collecting duct of the kidney. PHA II usually responds to salt restriction and thiazide diuretics...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29371419/plasma-potassium-determines-ncc-abundance-in-adult-kidney-specific-%C3%AE-enac-knockout
#9
Emilie Boscardin, Romain Perrier, Chloé Sergi, Marc P Maillard, Johannes Loffing, Dominique Loffing-Cueni, Robert Koesters, Bernard C Rossier, Edith Hummler
The amiloride-sensitive epithelial sodium channel (ENaC) and the thiazide-sensitive sodium chloride cotransporter (NCC) are key regulators of sodium and potassium and colocalize in the late distal convoluted tubule of the kidney. Loss of the α ENaC subunit leads to a perinatal lethal phenotype characterized by sodium loss and hyperkalemia resembling the human syndrome pseudohypoaldosteronism type 1 (PHA-I). In adulthood, inducible nephron-specific deletion of α ENaC in mice mimics the lethal phenotype observed in neonates, and as in humans, this phenotype is prevented by a high sodium (HNa+ )/low potassium (LK+ ) rescue diet...
March 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29319780/diabetes-mellitus-and-hyperkalemic-renal-tubular-acidosis-case-reports-and-literature-review
#10
Carlos Henrique Pires Ratto Tavares Bello, João Sequeira Duarte, Carlos Vasconcelos
Hyporeninemic hypoaldosteronism, despite being common, remains an underdiagnosed entity that is more prevalent in patients with diabetes mellitus. It presents with asymptomatic hyperkalemia along with hyperchloraemic metabolic acidosis without significant renal function impairment. The underlying pathophysiological mechanism is not fully understood, but it is postulated that either aldosterone deficiency (hyporeninemic hypoaldosteronism) and/or target organ aldosterone resistance (pseudohypoaldosteronism) may be responsible...
October 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29237184/transient-pseudohypoaldosteronism-caused-by-intestinal-abnormalities
#11
Toru Watanabe
No abstract text is available yet for this article.
March 2018: Klinische Pädiatrie
https://www.readbyqxmd.com/read/29127765/high-aldosterone-and-cortisol-levels-in-salt-wasting-congenital-adrenal-hyperplasia-a-clinical-conundrum
#12
Sirisha Kusuma Boddu, Sheeja Madhavan
BACKGROUND: Salt wasting syndrome (hyponatremia, hyperkalemia, dehydration, metabolic acidosis) in early infancy could be caused by either mineralocorticoid deficiency as in congenital adrenal hyperplasia (CAH) and adrenal insufficiency or mineralocorticoid resistance as in pseudohypoaldosteronism (PHA). In salt wasting CAH, serum aldosterone and cortisol levels are expected to be low. Cross reactivity between high levels of adrenal steroid precursors and aldosterone has recently been reported resulting in elevated aldosterone levels in CAH, leading to difficulty in differentiating between CAH and PHA...
November 27, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29107074/loss-of-%C3%AE-epithelial-sodium-channel-function-in-meibomian-glands-produces-pseudohypoaldosteronism-1-like-ocular-disease-in-mice
#13
Dongfang Yu, Yogesh Saini, Gang Chen, Andrew J Ghio, Hong Dang, Kimberlie A Burns, Yang Wang, Richard M Davis, Scott H Randell, Charles R Esther, Friedrich Paulsen, Richard C Boucher
Human subjects with pseudohypoaldosteronism-1 because of loss-of-function mutations in epithelial sodium channel (ENaC) subunits exhibit meibomian gland (MG) dysfunction. A conditional βENaC MG knockout (KO) mouse model was generated to elucidate the pathogenesis of absent ENaC function in the MG and associated ocular surface disease. βENaC MG KO mice exhibited a striking age-dependent, female-predominant MG dysfunction phenotype, with white toothpaste-like secretions observed obstructing MG orifices at 7 weeks of age...
January 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/28806843/congenital-jejunal-membrane-causing-transient-pseudohypoaldosteronism-and-hypoprothrombinemia-in-a-7-week-old-infant
#14
Matthias Nissen, Petra Dettmer, René Thränhardt, Klaus Winter, Thomas Niemeyer, Ralf-Bodo Tröbs
No abstract text is available yet for this article.
September 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28804203/clinical-features-and-molecular-basis-of-pseudohypoaldosteronism-type-1
#15
Toshihiro Tajima, Shuntaro Morikawa, Akie Nakamura
Pseudohypoaldosteronism (PHA) type 1 is a disease showing mineralocorticoid resistance in the kidney and/or other mineralocorticoid target tissues. Patients with PHA1 present very high plasma aldosterone and renin levels, but they develop excessive salt wasting. There are three types of PHA1. The systemic form of PHA1 is inherited in an autosomal recessive manner and causes severe life-long salt loss in multiple target tissues, such as sweat glands, salivary glands, the colonic epithelium, and the lung. In the systemic form of PHA1, life-long salt supplementation is necessary...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28743496/wnk4-is-indispensable-for-the-pathogenesis-of-pseudohypoaldosteronism-type-ii-caused-by-mutant-klhl3
#16
Koichiro Susa, Eisei Sohara, Daiei Takahashi, Tomokazu Okado, Tatemitsu Rai, Shinichi Uchida
WNK-OSR1/SPAK-NCC signaling cascade is important for regulating salt balance and blood pressure. Activation of WNK-OSR1/SPAK-NaCl cotransporter (NCC) cascade increases sodium reabsorption in the kidney, leading to pseudohypoaldosteronism type II (PHA II) characterized by salt-sensitive hypertension and hyperkalemia. It has been previously demonstrated that the amount of phosphorylated and total NCC markedly decreased in WNK4-/- mice, indicating that WNK4 plays a major role for activation of OSR1/SPAK-NCC signaling...
September 23, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28611771/tnf-lectin-like-domain-restores-epithelial-sodium-channel-function-in-frameshift-mutants-associated-with-pseudohypoaldosteronism-type-1b
#17
Anita Willam, Mohammed Aufy, Susan Tzotzos, Dina El-Malazi, Franziska Poser, Alina Wagner, Birgit Unterköfler, Didja Gurmani, David Martan, Shahid Muhammad Iqbal, Bernhard Fischer, Hendrik Fischer, Helmut Pietschmann, Istvan Czikora, Rudolf Lucas, Rosa Lemmens-Gruber, Waheed Shabbir
Previous in vitro studies have indicated that tumor necrosis factor (TNF) activates amiloride-sensitive epithelial sodium channel (ENaC) current through its lectin-like (TIP) domain, since cyclic peptides mimicking the TIP domain (e.g., solnatide), showed ENaC-activating properties. In the current study, the effects of TNF and solnatide on individual ENaC subunits or ENaC carrying mutated glycosylation sites in the α-ENaC subunit were compared, revealing a similar mode of action for TNF and solnatide and corroborating the previous assumption that the lectin-like domain of TNF is the relevant molecular structure for ENaC activation...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28593901/pseudohypoaldosteronism-types-i-and-ii-little-more-than-a-name-in-common
#18
Dídac Casas-Alba, Jordi Vila Cots, Laura Monfort Carretero, Loreto Martorell Sampol, Maria-Christina Zennaro, Xavier Jeunemaitre, Juan Antonio Camacho Díaz
Pseudohypoaldosteronism (PHA) comprises a diverse group of rare diseases characterized by sodium and potassium imbalances incorrectly attributed to a defect in aldosterone production. Two different forms of PHA have been described, type I (PHAI) and type II (PHAII). PHAI has been subclassified into renal and systemic. Given the rarity and heterogeneity of this group of disorders we report three patients who carry PHA and a brief revision of current literature focused on the comparative analysis of PHAI and PHAII...
May 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28567665/severe-hyperkalemia-is-rescued-by-low-potassium-diet-in-renal-%C3%AE-enac-deficient-mice
#19
Emilie Boscardin, Romain Perrier, Chloé Sergi, Marc Maillard, Johannes Loffing, Dominique Loffing-Cueni, Robert Koesters, Bernard Claude Rossier, Edith Hummler
In adulthood, an induced nephron-specific deficiency of αENaC (Scnn1a) resulted in pseudohypoaldosteronism type 1 (PHA-1) with sodium loss, hyperkalemia, and metabolic acidosis that is rescued through high-sodium/low-potassium (HNa(+)/LK(+)) diet. In the present study, we addressed whether renal βENaC expression is required for sodium and potassium balance or can be compensated by remaining (α and γ) ENaC subunits using adult nephron-specific knockout (Scnn1b(Pax8/LC1)) mice. Upon induction, these mice present a severe PHA-1 phenotype with weight loss, hyperkalemia, and dehydration, but unlike the Scnn1a(Pax8/LC1) mice without persistent salt wasting...
May 31, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28566208/development-of-wnk-signaling-inhibitors-as-a-new-class-of-antihypertensive-drugs
#20
Mari Ishigami-Yuasa, Yuko Watanabe, Takayasu Mori, Hiroyuki Masuno, Shinya Fujii, Eriko Kikuchi, Shinichi Uchida, Hiroyuki Kagechika
Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia and hypertension despite a normal glomerular filtration rate. Abnormal activation of the signal cascade of with-no-lysine kinase (WNK) with OSR1 (oxidative stress-responsive kinase 1)/SPAK (STE20/SPS1-related proline/alanine-rich kinase) and NCC (NaCl cotransporter) results in characteristic salt-sensitive hypertension. Thus, inhibitors of the WNK-OSR1/SPAK-NCC cascade are candidates for a new class of antihypertensive drugs. In this study, we developed novel inhibitors of this signal cascade from the 9-aminoacridine lead compound 1, one of the hit compounds obtained by screening our chemical library for WNK-SPAK binding inhibitors...
July 15, 2017: Bioorganic & Medicinal Chemistry
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