Three cases of Gordon syndrome with dominant KLHL3 mutations

2017 ◽  
Vol 30 (3) ◽  
Author(s):  
Ji Soo Park ◽  
Eujin Park ◽  
Hye Sun Hyun ◽  
Yo Han Ahn ◽  
Hee Gyung Kang ◽  
...  
Keyword(s):  
Filtration Rate ◽  
Correct Diagnosis ◽  
Rare Form ◽  
Case Presentation ◽  
Low Sodium Diet ◽  
Low Sodium ◽  
Low Renin Hypertension ◽  
Hyperchloremic Metabolic Acidosis ◽  
Monogenic Hypertension ◽  
Normal Glomerular Filtration Rate

AbstractBackground:Gordon syndrome (GS) is a rare form of monogenic hypertension characterized by low renin hypertension, hyperkalemia, hyperchloremic metabolic acidosis, and normal glomerular filtration rate. To date, four genes causing GS have been identified as:Case presentation:We report three cases of GS in two families. All patients presented with typical clinical features of GS and had a known dominantConclusions:GS should be considered in patients with low renin hypertension and hyperkalemia. Although it is a rare disease, the correct diagnosis of GS is clinically important, as it can easily be treated with a low sodium diet or thiazides. In addition, family studies can identify individuals with undiagnosed GS as all mutations causing this disease, except for some recessive

Effect of Chronic Hemorrhage on Urinary Aldosterone-Like Activity and Sodium Excretion in Dogs

1957 ◽  
Vol 189 (1) ◽  
pp. 181-184 ◽  
Author(s):  
M. Jay Goodkind ◽  
Wilmot C. Ball ◽  
James O. Davis
Keyword(s):  
Glomerular Filtration Rate ◽  
Glomerular Filtration ◽  
Sodium Excretion ◽  
Filtration Rate ◽  
Sodium Intake ◽  
Sodium Content ◽  
Sodium Diet ◽  
Low Sodium Diet ◽  
Low Sodium ◽  
Renal Sodium Excretion

Chronic hemorrhage in normal dogs resulted in increased urinary aldosterone-like activity and a reduction in renal sodium excretion which was approximately equivalent to the sodium content of the blood removed. Glomerular filtration rate either increased or did not change. A comparable increase in aldosterone-like activity was observed in urine from normal dogs fed a low sodium diet equivalent to the net sodium intake of dogs subjected to hemorrhage.

Dietary sodium intake modulates renal excretory responses to intrarenal angiotensin (1–7) administration in anesthetized rats

2013 ◽  
Vol 304 (3) ◽  
pp. R260-R266 ◽  
Author(s):  
Julie O'Neill ◽  
Alan Corbett ◽  
Edward J. Johns
Keyword(s):  
Glomerular Filtration Rate ◽  
Glomerular Filtration ◽  
Filtration Rate ◽  
Sodium Intake ◽  
Dietary Sodium ◽  
High Sodium ◽  
Sodium Diet ◽  
Low Sodium Diet ◽  
Low Sodium ◽  
Renal Hemodynamic

Angiotensin II at the kidney regulates renal hemodynamic and excretory function, but the actions of an alternative metabolite, angiotensin (1–7), are less clear. This study investigated how manipulation of dietary sodium intake influenced the renal hemodynamic and excretory responses to intrarenal administration of angiotensin (1–7). Renal interstitial infusion of angiotensin (1–7) in anesthetized rats fed a normal salt intake had minimal effects on glomerular filtration rate but caused dose-related increases in urine flow and absolute and fractional sodium excretions ranging from 150 to 200%. In rats maintained for 2 wk on a low-sodium diet angiotensin (1–7) increased glomerular filtration rate by some 45%, but the diuretic and natriuretic responses were enhanced compared with those in rats on a normal sodium intake. By contrast, renal interstitial infusion of angiotensin (1–7) in rats maintained on a high-sodium intake had no effect on glomerular filtration rate, whereas the diuresis and natriuresis was markedly attenuated compared with those in rats fed either a normal or low-sodium diet. Plasma renin and angiotensin (1–7) were highest in the rats on the low-sodium diet and depressed in the rats on a high-sodium diet. These findings demonstrate that the renal hemodynamic and excretory responses to locally administered angiotensin (1–7) is dependent on the level of sodium intake and indirectly on the degree of activation of the renin-angiotensin system. The exact way in which angiotensin (1–7) exerts its effects may be dependent on the prevailing levels of angiotensin II and its receptor expression.

scholarly journals Renal tubular acidosis--underrated problem?

2012 ◽  
Vol 59 (2) ◽  
Author(s):  
Edyta Golembiewska ◽  
Kazimierz Ciechanowski
Keyword(s):  
Glomerular Filtration Rate ◽  
Renal Tubular Acidosis ◽  
Filtration Rate ◽  
Fanconi Syndrome ◽  
Gene Mutations ◽  
Carbonic Anhydrase Ii ◽  
Hyperchloremic Metabolic Acidosis ◽  
Renal Tubular ◽  
Underlying Processes ◽  
Normal Glomerular Filtration Rate

Renal tubular acidosis (RTA) is a hyperchloremic metabolic acidosis characterized by a normal anion gap and normal (or near normal) glomerular filtration rate in the absence of diarrhoea. Inherited isolated forms of renal tubular acidosis are not common. However, they can also be a part of a more generalized tubule defect, like in Fanconi syndrome. In recent years more and more gene mutations have been found which are associated with RTA (mutations in the gene SLC4A4, encoding a Na(+)-HCO(3)(-) cotransporter (NBC-1); in the gene SLC4A1, encoding Cl(-)/HCO3(-) exchanger (AE1); in the gene ATP6B1, encoding B1 subunit of H(+)-ATPase; in the gene CA2 encoding carbonic anhydrase II; and others) and allow better understanding of underlying processes of bicarbonate and H(+) transport. Isolated renal tubular acidosis can be frequently acquired due to use of certain drug groups, autoimmune disease or kidney transplantation. As the prevalence of acquired forms of RTA is common, new therapeutic options for the currently used supplementation of oral alkali, are awaited.

Chronic Effects of Chlorothiazide on Reabsorption by the Proximal Tubule of the Rat

1975 ◽  
Vol 49 (2) ◽  
pp. 107-113 ◽  
Author(s):  
E. J. Weinman ◽  
G. Eknoyan
Keyword(s):  
Glomerular Filtration Rate ◽  
Proximal Tubule ◽  
Glomerular Filtration ◽  
Sodium Excretion ◽  
Filtration Rate ◽  
Diluting Segment ◽  
Sodium Diet ◽  
Low Sodium Diet ◽  
Low Sodium ◽  
Chronic Effects

1. The renal response to a low-sodium diet alone and a low-sodium diet plus the daily oral administration of chlorothiazide was examined in rats. Sodium restriction resulted in a decrease in sodium excretion until day 4, after which it remained constant. The administration of chlorothiazide resulted in an initial natriuresis. By day 6, however, the natriuresis had abated and thereafter sodium excretion remained the same as that of the low-sodium group. 2. After the animals were in balance on their respective regimens, clearance and micropuncture studies were performed. The glomerular filtration rate was lower in the chlorothiazide-treated rats than in control rats and/or in the low-sodium group. End proximal tubule TF/Pinulin ratios were higher in the diuretic-treated animals than in control rats. TF/Pinulin ratios in low-sodium animals were lower than in the diuretic-treated animals but higher than in control rats. 3. These studies demonstrate that the escape from the chronic effects of chlorothiazide is due to a decrease in the glomerular filtration rate and to an increase in fractional reabsorption in the proximal tubule, resulting in a reduction in delivery of filtrate to the cortical diluting segment where chlorothiazide exerts its major inhibitory effect.

scholarly journals Successful treatment of acquired reactive perforating collagenosis with itraconazole

2021 ◽  
Vol 26 (1) ◽  
Author(s):  
Binrong Ye ◽  
Yi Cao ◽  
Yeqiang Liu
Keyword(s):  
Skin Biopsy ◽  
Fungal Infection ◽  
Successful Treatment ◽  
Rare Form ◽  
Case Presentation ◽  
Therapeutic Benefits ◽  
Immunological Tests ◽  
Anti Inflammatory ◽  
Reactive Perforating Collagenosis

Abstract Background Acquired reactive perforating collagenosis (ARPC) is a rare form of transepithelial elimination in which altered collagen is extruded through the epidermis. Case presentation A 23-year-old male presented with cup-like ulcerated lesions on his limbs since 3 months. A series of serological and immunological tests showed no abnormalities. A diagnosis of ARPC was based on skin biopsy findings. The patient was cured using treatment with itraconazole for 8 weeks, in the absence of a fungal infection. Conclusions The anti-inflammatory and anti-angiogenic effects of itraconazole can have good therapeutic benefits for ARPC.

The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene

2020 ◽  
Vol 33 (12) ◽  
pp. 1605-1608
Author(s):  
Xiao Qin ◽  
Jingzi Zhong ◽  
Dan Lan
Keyword(s):  
Diabetes Mellitus ◽  
Novel Mutation ◽  
Male Infant ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Rare Form ◽  
Case Presentation ◽  
Abcc8 Gene

AbstractObjectivesNeonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life.Case presentationWe report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis at two months and 16 days. A novel homozygous missense mutation (c.259T>G) was identified in the ABCC8 gene. In this case, insulin was replaced with glimepiride at a dosage of 0.49 mg/kg/day at five months, and this achieved metabolic control and satisfactory growth as observed at follow-up.ConclusionsThis report improves our understanding of the mutational spectrum of ABCC8, which is normally associated with NDM, and shows that the treatment regimen for this condition can be successfully switched from insulin therapy to the use of sulfonylurea.

Thrombosed Urethral Prolapse: a case series and review of the literature

2021 ◽  
pp. 205141582110328
Author(s):  
Abisola Oliyide ◽  
Ijeoma Chibuzo ◽  
Magda Kujawa
Keyword(s):  
Clinical Condition ◽  
Correct Diagnosis ◽  
Age Distribution ◽  
Case Series ◽  
Review Of The Literature ◽  
Level Of Evidence ◽  
Case Presentation ◽  
Urethral Prolapse ◽  
Evidence Level

Thrombosed urethral prolapse is a rare clinical condition. In this context, we describe our experience and compare our findings with the literature, following presentation of five consecutive cases over 2 years. This will hopefully improve awareness and appropriateness of specialty referrals as a correct diagnosis is rarely established prior to the patient being seen by a urologist. We also wish to highlight a case presentation of thrombosed urethral prolapse outside the bimodal age distribution which has been recorded in the literature. Level of Evidence: Level 4

Time for a Renewed Focus on the DASH-Low Sodium Diet

2021 ◽  
Vol 77 (21) ◽  
pp. 2635-2637
Author(s):  
Neha J. Pagidipati ◽  
Laura P. Svetkey
Keyword(s):  
Sodium Diet ◽  
Low Sodium Diet ◽  
Low Sodium
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