Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report.

Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome. This gene is involved in the metabolism of glycosphingolipids and its pathogenic variants cause a deficit or absence of α-galactosidase A causing the deposition of globotriaosylceramide throughout the body. Females have a variable phenotypic expression and a better prognosis than males.

Creatine Kinase Elevation in Autosomal Dominant Polycystic Kidney Disease Patients on Tolvaptan Treatment.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cause of end-stage kidney disease. Currently, tolvaptan is the only treatment that has proven to delay disease progression. The most notable side effect of this therapy is drug-induced liver injury; however, recently, there have been two reports of creatine kinase (CK) elevation in ADPKD patients on tolvaptan treatment.

A review on autosomal dominant tubulointerstitial kidney disease.

In recent years there has been a reclassification of hereditary tubulointerstitial renal diseases. The old concepts of nephronoptisis or medullary cystic disease have been reordered based on the discovery of new genes. The 2015 KDIGO guidelines proposed a unification of terminology, diagnostic criteria and monitoring.

Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis.

Background: Tuberous sclerosis (TS) is a systemic disease, with an autosomal dominant pattern of inheritance caused by mutations in two genes (TSC1 and TSC2) that cause tumours (angiomyolipomas [AML], angiofibromas, astrocytomas). Constant and inadequate proliferation occurring in TS may be blocked by mTOR inhibitors (mammalian target of rapamycin), such as rapamycin.

Material And Methods: At present, our study includes 17 patients with TS.

[Sodium transporters and aquaporins: future renal biomarkers?].

Renal sodium and water reabsorption is mediated by renal sodium transporters and water channels or aquaporins which are localized in the apical and basolateral membranes of tubular epithelial cells. The main apical sodium transporters and water channels located along the nephron are: sodium-proton exchanger subtype 3 (NHE-3) which reabsorbs most of the sodium coming from the glomerular filtrate, sodium-phosphate type II cotransporter (NaPiII) and aquaporin-1, all of which are located in the proximal tubule; sodium-potassium-2 chloride cotransporter (NKCC2) which plays a key role in sodium reabsorption in the thick ascending limb; the sodium-chloride cotransporter (NCC) in the distal tubule; and the epithelial sodium channel (ENaC) and aquaporin-2 located in the collecting tubule. There are some experimental studies in which the role of these proteins has been associated with the pathophysiology of several sodium and water balance disorders.