Results 41 to 50 of about 19,914 (205)

Distal Renal Tubular Acidosis, Hypokalemic Paralysis, Nephrocalcinosis, Primary Hypothyroidism, Growth Retardation, Osteomalacia and Osteoporosis Leading to Pathological Fracture: A Case Report

Oman Medical Journal, 2011
Renal tubular acidosis (RTA) is a constellation of syndromes arising from different derangements of tubular acid transport. Recent advances in the biology of urinary acidification have allowed us to discern various molecular mechanisms responsible for ...
Mayada Mohammad Swar, Mohammad Mizanur Rahman, Khairy Mostafa Sharkawi, Ramen C. Basak   +3 more
doaj  

A child with distal (type 1) renal tubular acidosis presenting with progressive gross motor developmental regression and acute paralysis

BMC Research Notes, 2017
Background Distal (Type 1) renal tubular acidosis (dRTA) is characterized by inability to secrete hydrogen irons from the distal tubule. The aetiology of dRTA is diverse and can be either inherited or acquired.
Randula Ranawaka, Kavinda Dayasiri, Manoji Gamage   +2 more
doaj   +1 more source

Distal renal tubular acidosis as a cause of osteomalacia in a patient with primary Sjögren's syndrome [PDF]

Vojnosanitetski Pregled, 2005
Background. One half of the patients with primary Sjögren’s syndrome has extraglandular manifestations, including renal involvement. The most frequent renal lesion is tubulo-interstitial nephritis, which manifests clinically as distal tubular acidosis ...
Jovelić Aleksandra, Stefanović Dušan
doaj   +1 more source

The nitty‐gritty of vascular permeability in cancer: targeting blood endothelium to control metastases

British Journal of Pharmacology, EarlyView.
Blood vascular permeability is a hallmark of cancer and acts as an active driver of metastatic dissemination. Metastasis accounts for the vast majority of cancer deaths, yet most work has focussed on tumour‐intrinsic traits and angiogenesis, while the specific contribution of endothelial barrier regulation to intravasation and extravasation remains ...
Pierre Boucher, Mérone Da Costa Oliveira, Adrien Levesque, Alexandre Rutault, Patrick Savoyaud, Nicolas Bréchot, Stéphane Germain   +6 more
wiley   +1 more source

Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report

Journal of Medical Case Reports, 2009
Introduction Medullary sponge kidney is a congenital anomaly characterized by diffuse ectasy of the collecting tubules of one or both kidneys. It is usually diagnosed in the second or third decade of life.
El-Sawi Mohamed, Shahein Abdul-Rahman
doaj   +1 more source

CD93—An emerging vascular target in cancer therapy

British Journal of Pharmacology, EarlyView.
Abstract CD93 is a single‐pass transmembrane glycoprotein that belongs to the C‐type lectin domain group XIV family of proteins. Although it is known to be expressed in other cell types, namely, in some subsets of immune cells, CD93 is primarily expressed on endothelial cells, where it acts as a crucial regulator of angiogenesis.
Beatriz de Alves Pereira, Stefano Barbera, Roberta Lugano, Anna Dimberg   +3 more
wiley   +1 more source

A case report and literature review of primary distal renal tubular acidosis resulting from a mutation in ATP6V0A4

Frontiers in Pediatrics
Primary renal tubular acidosis is an inherited disorder with heterogeneous clinical presentations, including chronic metabolic acidosis, electrolyte imbalances (e.g., hypokalemia), skeletal abnormalities, and urinary tract symptoms.
Chenyang Chang, Hao Chen, Min Wang, Jingshan Chen, Yaomin Zou, Shaowen Hu, Shaowen Hu, Shaowen Hu, Kaiyuan Luo, Kaiyuan Luo, Kaiyuan Luo, Kaiyuan Luo, Xingyu Rao, Xingyu Rao, Xingyu Rao, Huifang Zhu, Huifang Zhu, Huifang Zhu, Huifang Zhu   +18 more
doaj   +1 more source

Renal tubular acidosis with hyperchloremic acidosis: harmless with a sting? [PDF]

Critical Care, 2015
Brunner et al. [1] showed a higher than previously described prevalence of renal tubular acidosis (RTA) in critically ill patients with hyperchloremic metabolic acidosis (HMA). They elegantly demonstrated that this condition often remains unrecognized owing to the simultaneous presence of metabolic alkalosis, mainly attributed to low plasma albumin ...
Honoré, Patrick M, Jacobs, Rita, Hendrickx, Inne, De Waele, Elisabeth, Van Gorp, Viola, Spapen, Herbert D   +5 more
openaire   +3 more sources

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source