Results 21 to 30 of about 20,672 (234)

Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations [PDF]

, 2006
Mutations of the AE1 (SLC4A1, Anion-Exchanger 1) gene that codes for band 3, the renal and red cell anion exchanger, are responsible for many cases of familial distal renal tubular acidosis (dRTA). In Southeast Asia this disease is usually recessive,
Taija K. Nicoli, Oliver M. Wrong, Lesle, J. Bruce, Tanner, Michael J. A., Taija, K. Nicoli, Keng, E. Choo, Ruiz-Linares, Andres, Wrong, Oliver M., Michael J. A. Tanner, Andres Ruiz-Linares, Keng E. Choo, Lesley J. Bruce   +11 more
core   +1 more source

Medullary nephrocalcinosis, distal renal tubular acidosis and polycythaemia in a patient with nephrotic syndrome

BMC Nephrology, 2012
Background Medullary nephrocalcinosis and distal renal tubular acidosis are closely associated and each can lead to the other. These clinical entities are rare in patients with nephrotic syndrome and polycythaemia is an unusual finding in such patients ...
Karunarathne Suneth, Udayakumara Yapa, Govindapala Dumitha, Fernando Harshini   +3 more
doaj   +1 more source

SGLT2 Inhibitor Use for Treatment of Hypocitraturia in a Distal Renal Tubular Acidosis

Kidney Medicine
5-Amino salicylic acid (5-ASA) is a known culprit for the development of tubulointerstitial nephritis. Together with impaired kidney function, tubulointerstitial nephritis can lead to specific tubular malfunctions including distal renal tubular acidosis.
Stefan Scherr, Sara H. Ksiazek, Christoph Schwarz, Marcus D. Säemann   +3 more
doaj   +1 more source

A case of severe metabolic acidosis during pregnancy

Clinical Case Reports, 2019
Key Clinical Message Renal tubular acidosis (RTA) is a disorder that impairs renal acid‐base regulation leading to normal anion gap metabolic acidosis. It is rare to encounter this entity during pregnancy. Pregnancy can worsen renal tubular acidosis (RTA)
Mo'tasem Alkhasoneh, Jennifer Jacobs, Gurwant Kaur   +2 more
doaj   +1 more source

Distal renal tubular acidosis a rarely diagnosed cause of failure to thrive: A report of three cases

Ibom Medical Journal, 2007
SUMMARY Three cases of distal renal tubular acidosis aged between 6 - 12weeks are described. The presenting features included lethargy, refusal to feed, marked periodic respiration, vomiting and recurrent episode of unexplained metabolic acidosis.
Adeleke SI, Asani MO
doaj   +1 more source

Familial distal renal tubular acidosis

Journal of International Medical Research, 2021
We report the case of a family in which two sisters have distal renal tubular acidosis (dRTA). Familial dRTA is a rare disorder, with both autosomal dominant and recessive transmission. This is a report of familial dRTA from China.
Lihong Zhang, Bei Xu, Ya Niu, Yajuan Wang, Hui Tang   +4 more
doaj   +1 more source

Distal renal tubular acidosis and severe hypokalemia: a case report and review of the literature

Journal of Medical Case Reports, 2019
Background Distal renal tubular acidosis is a relatively infrequent condition with complex pathophysiology that can present with life-threatening electrolyte abnormalities.
George Vasquez-Rios, David John Westrich, Isaac Philip, John C. Edwards, Stephanie Shieh   +4 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Triggering of erythropoietin production by hypoxia is inhibited by respiratory and metabolic acidosis

, 1990
Erythropoietin (EPO) production in response to hypoxic hypoxia is known to be attenuated by simultaneous hypercapnia. This study aimed to investigate whether this inhibitory effect of hypercapnia is 1) a direct effect of carbon dioxide or mediated by ...
Eckardt, K. U., Kurtz, Armin, Bauer, C., A. Kurtz, C. Bauer, K. U. Eckardt   +5 more
core   +1 more source

Sjogren's Syndrome in the Mask of Hypokalemia: A Case Report

Journal of Nepal Medical Association
Sjogren's syndrome is an autoimmune disease characterized by lymphocytic infiltration of exocrine glands resulting in xerostomia and dry eyes affecting entire body. A 40-year-old woman presented with generalized weakness and shortness of breath. She had
Krishna Bahadur Sodari, Pragyan Basnet, Krishna Adhikari   +2 more
doaj   +1 more source