Renal Tubular Acidosis (RTA)-Causes-Types-Diagnosis-Treatment-Complications

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Latest Publications and Research on Renal Tubular Acidosis

J Med Case Rep    

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

Source: PubMed


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

Source: PubMed

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

Source: PubMed

Physiol Rep    

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

Source: PubMed

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

Source: PubMed

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