scholarly journals Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure

2015 ◽  
Vol 2015 ◽  
pp. 1-5
Author(s):  
Cem Sahin ◽  
Bulent Huddam ◽  
Gulhan Akbaba ◽  
Hasan Tunca ◽  
Emine Koca ◽  
...  
Keyword(s):  
Renal Failure ◽  
Mental Retardation ◽  
Chronic Renal Failure ◽  
Renal Damage ◽  
Autosomal Recessive ◽  
Retinal Dystrophy ◽  
Genital System ◽  
Bardet Biedl Syndrome ◽  
Common Cause ◽  
Advanced Stages

Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. BBS shows heterogenic transfer. To date, 18 genes (BBS1–18) and 7 BBS proteins have been defined as related to BBS. All of the defined BBS genes have been shown to be related to the biogenesis or function of cilia. Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality. Therefore, as one of the major diagnostic criteria, renal damage is of great importance in early diagnosis. This paper presents the cases of two brothers with BBS who presented with chronic renal failure.

scholarly journals BARDET-BIEDL SYNDROME – CASE PRESENTATION

2015 ◽  
Vol 64 (3) ◽  
pp. 289-292
Author(s):  
Sorin Ioan Iurian ◽  
◽  
Heleen Arts ◽  
Han Brunner ◽  
Dana Fintina ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Retinal Dystrophy ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Case Presentation ◽  
Bardet Biedl Syndrome

Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight, polydactyly and hypo-genitalism.

scholarly journals Bardet Biedl Syndrome- A Case Report

1970 ◽  
Vol 20 (1) ◽  
pp. 56-59
Author(s):  
M Azizul Haque ◽  
LS Sharmin ◽  
Q Tarikul Islam ◽  
ARM Saifuddin Ekram
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Autosomal Recessive ◽  
Wide Spectrum ◽  
Retinal Dystrophy ◽  
Male Hypogonadism ◽  
Bardet Biedl Syndrome ◽  
Autosomal Recessive Condition ◽  
Characteristic Features ◽  
Criteria For Diagnosis

Bardet Biedl syndrome is a rare autosomal recessive condition with a wide spectrum of clinical features. The accepted major criteria for diagnosis include retinal dystrophy, obesity, polydactyly, male hypogonadism, mental retardation and renal dysfunction. We have presented a 16 year old male patient exhibiting characteristic features of Bardet Biedl syndrome (BBS) and then the literature is reviewed.   doi: 10.3329/taj.v20i1.3092 TAJ 2007; 20(1):56-59

Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency

1998 ◽  
Vol 275 (1) ◽  
pp. F154-F163 ◽  
Author(s):  
Michael G. Stockelman ◽  
John N. Lorenz ◽  
Frost N. Smith ◽  
Gregory P. Boivin ◽  
Amrik Sahota ◽  
...  
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Kidney Disease ◽  
Creatinine Clearance ◽  
Renal Damage ◽  
Male Mice ◽  
Adenine Phosphoribosyltransferase ◽  
Disease Treatment ◽  
Significant Impairment ◽  
Normal Males

In humans, adenine phosphoribosyltransferase (APRT, EC 2.4.2.7 ) deficiency can manifest as nephrolithiasis, interstitial nephritis, and chronic renal failure. APRT catalyzes synthesis of AMP from adenine and 5-phosphoribosyl-1-pyrophosphate. In the absence of APRT, 2,8-dihydroxyadenine (DHA) is produced from adenine by xanthine dehydrogenase (XDH) and can precipitate in the renal interstitium, resulting in kidney disease. Treatment with allopurinol controls formation of DHA stones by inhibiting XDH activity. Kidney disease in APRT-deficient mice resembles that seen in humans. By age 12 wk, APRT-deficient male mice are, on average, mildly anemic and smaller than normal males. They have extensive renal interstitial damage (assessed by image analysis) and elevated blood urea nitrogen (BUN), and their creatinine clearance rates, which measure excretion of infused creatinine as an estimate of glomerular filtration rate (GFR), are about half that of wild-type males. APRT-deficient males treated with allopurinol in the drinking water had normal BUN and less extensive visible renal damage, but creatinine clearance remained low. Throughout their lifespans, homozygous null female mice manifested significantly less renal damage than homozygous null males of the same age. APRT-deficient females showed no significant impairment of GFR at age 12 wk. Consequences of APRT deficiency in male mice are more pronounced than in females, possibly due to differences in rates of adenine or DHA synthesis or to sex-determined responses of the kidneys.

Uroangiographic Contrast Media-Induced Nephropathy: Correlations between Their Physicochemical Properties and Renal Damage

2005 ◽  
Vol 72 (4) ◽  
pp. 446-456
Author(s):  
C. Alberti ◽  
M. Piovano ◽  
A. Tizzani
Keyword(s):  
Diabetes Mellitus ◽  
Renal Failure ◽  
Acute Renal Failure ◽  
Chronic Renal Failure ◽  
Contrast Media ◽  
Renal Damage ◽  
Contrast Material ◽  
Vasoactive Mediators ◽  
Adequate Hydration ◽  
Hospital Acquired

Contrast media-induced nephropathy (CN) is an important cause of hospital-acquired acute renal failure. Patients with both diabetes mellitus and renal impairment are at high risk. CN pathophysiology involves activation of the tubulo-glomerular feedback and vasoactive mediators such as renin-angiotensin 2, endothelin, adenosine, ADH, etc. The risk of CN can be minimized by the use of non-ionic, low or isoosmolar, contrast material, adequate hydration and prophylactic pharmacological measures. In patients with chronic renal failure who are undergoing arteriography (e.g. coronary angiography and angioplasty), periprocedural hemofiltration appears effective in preventing further renal damage due to contrast agents.

scholarly journals Protein-to-creatinine urinary in the early diagnosis of renal injury in canine pyometra

2019 ◽  
Vol 39 (3) ◽  
pp. 186-191
Author(s):  
Marcos C. Sant’Anna ◽  
Guilherme F. Martins ◽  
Karina K.M.C. Flaiban ◽  
Luiz G.C. Trautwein ◽  
Maria I.M. Martins
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Renal Injury ◽  
Renal Damage ◽  
Systemic Disease ◽  
The Other ◽  
Control Group ◽  
Creatinine Ratio ◽  
Renal Lesions ◽  
Tubular Cells

ABSTRACT: Kidney disease that affects bitches with pyometra may lead patients to develop chronic renal failure even after pyometra treatment. Therefore, several studies have sought to clarify the gaps in the understanding of the pathogenesis of renal injury in pyometra. Identification of early detection markers for renal damage, which can predict and identify the prognosis of the disease, is very important. Proteinuria analysis can diagnose kidney damage, since proteins such as albumin are not filtered through the glomerulus and those that undergo glomerular filtration are almost completely reabsorbed by tubular cells. The objective of this study was to evaluate whether the urinary protein-to-creatinine ratio (UPC) can detect renal injury in bitches with pyometra before development of azotemia. For this, 44 bitches with pyometra were divided into two groups: bitches with azotemic piometra (A, n=15, creatinine >1.7) and bitches with non-azotemic pyometra (NA, n=29). The two groups were compared to the control group (CG, n=12), which had no signs of systemic disease. All animals underwent blood and urine tests. Leukocytosis was more evident in bitches in the A group than in the other groups. This shows that the inflammatory response may be associated with the pathogenesis of renal injury. The median UPC in bitches with pyometra was significantly higher than in the CG, with a median above the reference values. In conclusion, the UPC can be used in bitches with pyometra to detect renal damage before the development of azotemia. It has been suggested that the UPC of bitches with pyometra should be followed through during the postoperative period so that permanent renal lesions secondary to pyometra can be diagnosed and treated properly before the development of azotemia.

Inhibitors of the Fibrinolytic Enzyme System in Renal Disease

1970 ◽  
Vol 39 (5) ◽  
pp. 549-557 ◽  
Author(s):  
N. B. Bennett ◽  
D. Ogston
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Renal Damage ◽  
Enzyme System ◽  
Normal Subjects ◽  
Plasminogen Activation ◽  
Significant Elevation ◽  
Normal Range ◽  
Marked Inhibition ◽  
Serum Inhibitor

1. Levels of serum inhibitor of plasminogen activation, anti-plasmin and plasminogen activator were measured in normal subjects and patients with active glomerulonephritis and chronic renal failure. 2. Patients with active glomerulonephritis all had grossly elevated levels of serum inhibitor of plasminogen activation and significant elevation of anti-plasmin. The majority of activator levels lay at the lower end of the normal range. 3. Patients with chronic renal failure had significantly elevated levels of serum inhibitor of plasminogen activation and anti-plasmin, but the changes were less marked than in those with active glomerulonephritis. Activator levels were consistently reduced. 4. The marked inhibition of fibrinolysis in active glomerulonephritis may be a factor in the persistence of glomerular fibrin and ultimately in perpetuation of renal damage. The changes in the fibrinolytic system in chronic renal failure may determine the development of the serosal exudates characteristic of that condition.

scholarly journals Salvianolic acid A alleviates the renal damage in rats with chronic renal failure

2019 ◽  
Vol 34 (2) ◽  
Author(s):  
Guangming Zhang ◽  
Guanghua Cui ◽  
Shuangxi Tong ◽  
Qingxian Cao
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Renal Damage ◽  
Salvianolic Acid ◽  
Salvianolic Acid A

scholarly journals MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34

2006 ◽  
Vol 14 (5) ◽  
pp. 543-548 ◽  
Author(s):  
Daniel J Hampshire ◽  
Mohammed Ayub ◽  
Kelly Springell ◽  
Emma Roberts ◽  
Hussain Jafri ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Retinal Dystrophy ◽  
Autosomal Recessive Disorder ◽  
Truncal Obesity

scholarly journals KIDNEY DAMAGE IN PATIENTS WITH RHEUMATOID ARTHRITIS

2019 ◽  
Vol 19 (2) ◽  
pp. 246-250
Author(s):  
L.A. Tkachenko ◽  
U.A. Kostrikova ◽  
T.I. Yarmola ◽  
G.L. Pustovoit ◽  
V.V. Talash
Keyword(s):  
Rheumatoid Arthritis ◽  
Renal Failure ◽  
Chronic Renal Failure ◽  
Renal Damage ◽  
Relevant Literature ◽  
Kidney Damage ◽  
Renal Amyloidosis ◽  
Predominant Role ◽  
Terminal Renal Failure ◽  
Uremic Syndrome

The purpose of this work is to perform a general analysis of relevant literature on the issue of kidney damage in patients with rheumatoid arthritis. Kidney damage in patients with rheumatic diseases is potentially dangerous, as it can lead to the development of terminal renal failure that may require replacement renal therapy. Amyloidosis often leads to kidney failure in patients with rheumatoid arthritis. Renal amyloidosis more often develops in patients with acute course of rheumatoid arthritis and under maximal immunological disorders. In patients with renal amyloidosis against the background of rheumatoid arthritis, manifestations of joint affection decrease, while the renal-uremic syndrome takes a predominant role. Signs of nephrotic syndrome and chronic renal failure develop gradually. Kidney damage can be caused by medications for rheumatoid arthritis. The choice of the optimal scheme of individual-centred therapy is vitally important for patients, since every aggravation of both rheumatic disease and secondary renal damage leads to the progression of chronic renal failure.

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