• Childhood Kidney Diseases
• /
• v.24 no.1
• /
• pp.58-61
• /
• 2020

Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused by resistance to mineralocorticoid action. PHA1 is of two types with different levels of disease severity and phenotype as follows: systemic type with an autosomal recessive inheritance (caused by mutations of the epithelial sodium channel) and renal type with an autosomal dominant inheritance (caused by mutations in the mineralocorticoid receptor). The clinical manifestations of PHA1 vary widely; however, PHA1 commonly involves hyponatremia, hyperkalemia, metabolic acidosis and elevated levels of renin and aldosterone. The earliest signs of both type of PAH1 also comprise insufficiency weight gain due to chronic dehydration and failure to thrive during infancy. Here, we report a case of renal PAH1 in a 28-day-old male infant harboring a novel heterozygous mutation in NR3C2 gene (c.1341_1345dupAAACC in exon 2), showing only failure to thrive without the characteristic of dehydration.

• The Korean Journal of Physiology and Pharmacology
• /
• v.15 no.3
• /
• pp.163-169
• /
• 2011

Corticosterone is known to modulate GABAergic synaptic transmission in the hypothalamic paraventricular nucleus. However, the underlying receptor mechanisms are largely unknown. In the anterior hypothalamic area (AHA), the sympathoinhibitory center that project GABAergic neurons onto the PVN, we examined the expression of glucocorticoid receptor (GR) and mineralocorticoid receptor (MR) of GABAergic neurons using intact GAD65-eGFP transgenic mice, and the effects of corticosterone on the burst firing using adrenalectomized transgenic mice. GR or MR immunoreactivity was detected from the subpopulations of GABAergic neurons in the AHA. The AHA GABAergic neurons expressed mRNA of GR (42%), MR (38%) or both (8%). In addition, in brain slices incubated with corticosterone together with RU486 (MR-dominant group), the proportion of neurons showing a burst firing pattern was significantly higher than those in the slices incubated with vehicle, corticosterone, or corticosterone with spironolactone (GR-dominant group; 64 vs. 11~14%, p<0.01 by $x^2$-test). Taken together, the results show that the corticosteroid receptors are expressed on the GABAergic neurons in the AHA, and can mediate the corticosteroid-induced plasticity in the firing pattern of these neurons. This study newly provides the experimental evidence for the direct glucocorticoid modulation of GABAergic neurons in the AHA in the vicinity of the PVN.

• Journal of Physiology & Pathology in Korean Medicine
• /
• v.31 no.6
• /
• pp.313-327
• /
• 2017

The purpose of this study is to predict the effects of macroscopic and integrative therapies by finding active ingredients, potential targets of Astragalus membranaceus (Am) and Cornus officinalis (Co) for diabetic nephropathy. We have constructed network pharmacology-based systematic and network methodology by system biology, chemical structure, chemogenomics. We found several active ingredients of Astragalus membranaceus (Am) and Cornus officinalis (Co) that were speculated to bind to specific receptors which had been known to have a role in the progression of diabetic nephropathy. Four components of Am and eleven components of Co could bind to iNOS; two ingredients of Am and six ingredients of Co could docking to cGB-PDE; one component of Am and nine components of Co could bind to ACE; three ingredients of Co with neprilysin; three components of Co with ET-1 receptor; four ingredients of Am and fourteen ingredients of Co with mineralocorticoid receptor; one component of Am and seven components of Co with interstitial collagenase; one ingredient of Am and ten ingredients of Co with membrane primary amine oxidase; one component of Am and four components of Co with JAK2; two ingredients of Am and one ingredient of Co with MAPK 12; one component of Am and five components of Co could docking to TGF-beta receptor type-1. From this work we could speculate that the possible mechanisms of Am and Co for diabetic nephropathy are anti-inflammatory, antioxidant and antihypertensive effects.