Incomplete Distal Renal Tubular Acidosis from a Heterozygous Mutation of the V-ATPase B1 Subunit.
Incomplete Distal Renal Tubular Acidosis from a Heterozygous Mutation of the V-ATPase B1 Subunit. Am J Physiol Renal Physiol. 2014 Aug 27; Authors: Zhang J, Fuster DG, Cameron MA, Quiñones H, Griffith C, Xie XS, Moe OW Abstract Congenital distal renal tubular acidosis (dRTA) from mutations of the B1 subunit of the V-ATPase is considered an autosomal recessive disease. We analyzed a dRTA kindred with a truncation-mutation of B1 (p.Phe468fsX487) previously shown to have failure of assembly into the V1 domain of the V-ATPase. All heterozygous carriers in this kindred have normal plasma bicarbonate concentrations, thus evaded the diagnosis of RTA. However, inappropriately high urine pH, hypocitraturia, and hypercalciuria are present either individually or in combination in the heterozygotes at baseline. Two of the heterozygotes studied also have inappropriate urinary acidification with acute ammonium chloride loading and impaired urine-blood pCO2 gradient during bicarbonaturia indicating presence of H+ gradient and flux defects. In normal human renal papillae, wild type B1 is located primarily on the plasma membrane but papilla from one of the heterozygote who had kidney stones had renal tissue secured from surgery showed B1 in both plasma membrane as well as a diffuse intracellular staining. Titrating increasing amounts of the mutant B1 subunit did not exhibit negative dominance over the expression, cellular distribution, or H+-pump activity of the w...
The history of urolithiasis on Earth began during the stone age (Mesolithic period) with the oldest stone identified (8,500 BCE) in Sicily within the bladder of a cave-dwelling woman.1 The history of stone disease has continued throughout human evolution with calculi being found in both the kidney and the bladder in ancient Homo sapiens.2 Hippocrates (460-370 BCE) recognized stone disease in society and included within the current Hippocratic oath, “I shall not cut for stone,” thus illustrating that urolithiasis is genuinely an ancient disease.
(The Academy of Medicine, Engineering&Science of Texas) Changing the future of Alzheimer's Disease. Utilizing crystals to produce drugs for kidney stones and malaria. Understanding previously unobserved functions of our universe. And pioneering the evolution of wound care. These are the discoveries by Texas' rising stars in research being honored with the 2020 Edith and Peter O'Donnell Awards by TAMEST.
(The Academy of Medicine, Engineering&Science of Texas) Jeffrey Rimer, Ph.D., Abraham E. Dukler Professor of Chemical Engineering at the University of Houston, is the recipient of the TAMEST 2020 Edith and Peter O'Donnell Award in Engineering for his seminal breakthroughs using crystals to help treat malaria and kidney stones.
Publication date: December 2019Source: European Urology Supplements, Volume 18, Issue 12Author(s): N. Monolov, R. Mamatbekov, A. Kadyrbekov, A. Vasilev
Publication date: December 2019Source: European Urology Supplements, Volume 18, Issue 12Author(s): Stepanenko Gennady Anatolyevich, Pankov Viktor Sergeevich
Purpose of review The surgical tool-box for urinary stone disease is growing. In this review, we discuss recent developments in the surgical management of urolithiasis, with emphasis on tailoring the management to the individual patient, and attention to the quality of care. Recent findings Shockwave lithotripsy remains a popular noninvasive treatment option for patients, with new data emerging on how to improve treatment outcomes as well as its limitations. Next-generation holmium lasers are expanding the role of dusting techniques for ureteroscopy but further studies are needed to assess safety and clinical outcomes...
CAMBRIDGE (CBS) – A new treatment could help ease the passage of kidney stones, according to researchers at MIT and Massachusetts General Hospital. Scientists said this week that muscle relaxants can reduce the contractions that cause pain when passing the stones. About 1 in 10 people will have the painful experience of kidney stones. They cause more than 500,000 emergency room visits in the United States every year. But local researchers think they’ve made a discovery that can help. They say delivering a combination of two muscle relaxants directly to the ureter, the tube that connects the kidneys and bladder,...
Researchers at MIT have identified a combination of muscle-relaxing drugs that, when administered to the ureter, eliminated pain in pigs with kidney stones. It would be the first new treatment in 40 years.
CONCLUSION: Our randomized control trial study shows that choosing the optimal position in the PCNL technique depends on the patient's conditions. If hemodynamic control matters to the anesthesiologist, the lateral position is appropriate. However, if control of pain and longer time of analgesia are important, the prone position may be preferred. PMID: 31788775 [PubMed - as supplied by publisher]
PMID: 31790177 [PubMed - in process]