Latest Publications and Research on Renal Tubular Acidosis
Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report.
Janjua MU, Long XD, Mo ZH, Dong CS, Jin P
Medullary sponge kidney is a rare renal malformation, which usually manifests as nephrocalcinosis, renal tubular acidosis, and recurrent urinary tract... Read More
Am. J. Clin. Nutr. 2018 Jun 27
Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?
Debray FG, Damjanovic K, Rosset R, Mittaz-Crettol L, Roux C, Braissant O, Barbey F, Bonafé L, De Bandt JP, Tappy L, Paquot N, Tran C
High fructose intake causes hepatic insulin resistance and increases postprandial blood glucose, lactate, triglyceride, and uric acid concentrations. ... Read More
World Neurosurg 2018 Jun 20
An Exceptional Neurosurgical Presentation of a Patient with Osteopetrosis.
Isler C, Kayhan A, Ugurlar D, Hanimoglu H, Ulu MO, Uzan M, Erdincler P, Ozlen F
... Read More
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
Fearn A, Allison B, Rice SJ, Edwards N, Halbritter J, Bourgeois S, Pastor-Arroyo EM, Hildebrandt F, Tasic V, Wagner CA, Hernando N, Sayer JA, Werner A
Mutations in SLC34A1, encoding the proximal tubular sodium-phosphate transporter NaPi-IIa, may cause a range of clinical phenotypes including infantil... Read More
BMC Med. Genet.
SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.
Horita S, Simsek E, Simsek T, Yildirim N, Ishiura H, Nakamura M, Satoh N, Suzuki A, Tsukada H, Mizuno T, Seki G, Tsuji S, Nangaku M
Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such a... Read More