Bartter syndrome: causes, diagnosis, and treatment

Cunha, Tamara da Silva; Heilberg, Ita Pfeferman

doi:10.2147/ijnrd.s155397

Cited by 79 publications

(60 citation statements)

References 84 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Another inherited renal tubular disorder is Bartter syndrome, which is generated by defective salt reabsorption in the thick ascending limb of the loop of Henle, leading to salt wasting, hypokalemia and metabolic alkalosis [112]. Li et al [113] described a case of type 2 Bartter syndrome positively treated with celecoxib and Vitamin D. Krishnamurthy et al [114] presented a case of Bartter syndrome with Vitamin D-resistant rickets, probably secondary to the calcipenic effect of hyperprostaglandinemia or phosphate loss in urine.…”

Section: Vitamin D In Primitive Renal Tubular Disordersmentioning

confidence: 99%

Protective Role of Vitamin D in Renal Tubulopathies

et al. 2020

View full text Add to dashboard Cite

Vitamin D is tightly linked with renal tubular homeostasis: the mitochondria of proximal convoluted tubule cells are the production site of 1α,25-dihydroxyvitamin D3. Patients with renal impairment or tubular injury often suffer from chronic inflammation. This alteration comes from oxidative stress, acidosis, decreased clearance of inflammatory cytokines and stimulation of inflammatory factors. The challenge is to find the right formula for each patient to correctly modulate the landscape of treatment and preserve the essential functions of the organism without perturbating its homeostasis. The complexity of the counter-regulation mechanisms and the different axis involved in the Vitamin D equilibrium pose a major issue on Vitamin D as a potential effective anti-inflammatory drug. The therapeutic use of this compound should be able to inhibit the development of inflammation without interfering with normal homeostasis. Megalin-Cubilin-Amnionless and the FGF23-Klotho axis represent two Vitamin D-linked mechanisms that could modulate and ameliorate the damage response at the renal tubular level, balancing Vitamin D therapy with an effect potent enough to contrast the inflammatory cascades, but which avoids potential severe side effects.

show abstract

Section: Vitamin D In Primitive Renal Tubular Disordersmentioning

confidence: 99%

Protective Role of Vitamin D in Renal Tubulopathies

et al. 2020

View full text Add to dashboard Cite

show abstract

“…The aim of treatment is based on correcting the imbalance of electrolytes, by using supplements or nonsteroidal anti-inflammatories (NSAIDs) and diuretic. 29,30 Hypocitraturia:…”

Section: Hypercalciuriamentioning

confidence: 99%

Metabolic disorders in kidney stone disease in children

Kusz

Alzubedi

Polski

et al. 2020

J Educ Health Sport

View full text Add to dashboard Cite

Urolithiasis is not a rare disorder in children. Its etiology, incidence and localization vary by geographic region. It is an increasing problem, especially in developing countries. Metabolic abnormalities have been claimed to play a significant role in the kidney stone disease. Most of the studies confirmed that hypercalciuria, hypocitraturia are the most commonly identified metabolic disorder in children with urolithiasis. It is important to evaluate them to modify and prevent the stone recurrence.

show abstract

“…In addition, a poor phenotype-genotype relationship has been reported. This is likely due to the interaction with other cotransporters and different degrees of compensation through alternative pathways [6].…”

Section: Introductionmentioning

confidence: 99%

Urinary Extracellular Vesicles and Salt-Losing Tubulopathies: A Proteomic Approach

et al. 2020

View full text Add to dashboard Cite

Renal tubular cells release urinary extracellular vesicles (uEV) that are considered a promising source of molecular markers for renal dysfunction and injury. We investigated uEV proteomes of patients with hereditary salt-losing tubulopathies (SLTs), focusing on those caused by Gitelman and Bartter (BS) syndromes, to provide potential markers for differential diagnosis. Second morning urine was collected from patients with genetically proven SLTs and uEV were isolated by the ultracentrifugation-based protocol. The uEV proteome was run through a diagonal bidimensional electrophoresis (16BAC/SDS-PAGE), to improve hydrophobic protein resolution. Sixteen differential spots from the proteome of two variants (BS2 and BS3) were analysed by nLC-ESI-MS/MS after in-gel tryptic digestion. A total of 167 protein species were identified from 7 BS2 spots and 9 BS3 spot. Most of these proteins were membrane-associated proteins, in particular transmembrane proteins, and were related to typical renal functions. The differential content of some uEV was then validated by immunoblotting. Our work suggests that uEV proteomics represents a promising strategy for the identification of differential SLT proteins. This could play a role in understanding the pathophysiological disease mechanisms and may support the recognition of different syndromes.

show abstract

Bartter syndrome: causes, diagnosis, and treatment

Cited by 79 publications

References 84 publications

Protective Role of Vitamin D in Renal Tubulopathies

Protective Role of Vitamin D in Renal Tubulopathies

Metabolic disorders in kidney stone disease in children

Urinary Extracellular Vesicles and Salt-Losing Tubulopathies: A Proteomic Approach

Contact Info

Product

Resources

About