			Home About us Contact

Renal Symptoms (renal + symptom)

Distribution by Scientific Domains

Medical Sciences	80%

Selected Abstracts

Liver and kidney disease in ciliopathies,,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 4 2009
Meral Gunay-Aygun§
Abstract Hepatorenal fibrocystic diseases (HRFCDs) are among the most common inherited human disorders. The discovery that proteins defective in the autosomal dominant and recessive polycystic kidney diseases (ADPKD and ARPKD) localize to the primary cilia and the recognition of the role these organelles play in the pathogenesis of HRFCDs led to the term "ciliopathies." While ADPKD and ARPKD are the most common ciliopathies associated with both liver and kidney disease, variable degrees of renal and/or hepatic involvement occur in many other ciliopathies, including Joubert, Bardet,Biedl, Meckel,Gruber, and oral,facial,digital syndromes. The ductal plate malformation (DPM), a developmental abnormality of the portobiliary system, is the basis of the liver disease in ciliopathies that manifest congenital hepatic fibrosis (CHF), Caroli syndrome (CS), and polycystic liver disease (PLD). Hepatocellular function remains relatively preserved in ciliopathy-associated liver diseases. The major morbidity associated with CHF is portal hypertension (PH), often leading to esophageal varices and hypersplenism. In addition, CD predisposes to recurrent cholangitis. PLD is not typically associated with PH, but may result in complications due to mass effects. The kidney pathology in ciliopathies ranges from non-functional cystic dysplastic kidneys to an isolated urinary concentration defect; the disorders contributing to this pathology, in addition to ADPKD and ARPKD, include nephronophithisis (NPHP), glomerulocystic kidney disease and medullary sponge kidneys. Decreased urinary concentration ability, resulting in polyuria and polydypsia, is the first and most common renal symptom in ciliopathies. While the majority of ADPKD, ARPKD, and NPHP patients require renal transplantation, the frequency and rate of progression to renal failure varies considerably in other ciliopathies. This review focuses on the kidney and liver disease found in the different ciliopathies. Published 2009 Wiley-Liss, Inc. [source]

Primary hyperparathyroidism: Referral patterns and outcomes of surgery

ANZ JOURNAL OF SURGERY, Issue 3 2002
Richard S. Flint
Background: Parathyroidectomy has long been established as an effective treatment for primary hyperparathyroidism (HPT). Methods: A 15-year retrospective audit was made by surgeons at North Shore Hospital, Auckland, of 33 patients with primary HPT who had parathyroidectomy. Results: There were 22 females and 11 males, ranging in age from 18 to 77 years (median 63 years). Initial diagnosis was predominantly by a general practitioner (72%), who invariably referred to a physician. Referral to surgery was made by general physicians (55%), endocrinologists (33%) and geriatricians (6%). Delay between diagnosis and referral for surgery ranged from 8 days to 10 years (median 7 months), and exceeded 2 years in 24% of patients. Twenty-eight (85%) were symptomatic: 13 (39%) had renal symptoms, 13 (39%) had bone disease, 10 (31%) had gastrointestinal complaints, seven (21%) had psychiatric illnesses and six (18%) had fatigue. The high incidence of symptoms was matched by high biochemical values (mean serum cal- cium level 2.97 mmol/L), and large parathyroid glands (mean weight 2001 mg). Twenty-nine patients (88%) had single adenomas, two (6%) had chief cell hyperplasia and two (6%) had carcinoma. Thirty-one (94%) were cured of their primary HPT. Conclusions: Parathyroidectomy is a safe and effective treatment for primary HPT but depends upon referral from non-surgical clinicians. A large proportion of patients have long delays before their surgery, and the group selected for surgery is referred with severe disease. [source]

Upper pole access for complex lower pole renal calculi

BJU INTERNATIONAL, Issue 6 2004
Monish Aron
Authors from New Delhi assessed the efficacy of superior pole access for complex lower pole calyceal calculi; they found this to be the best way of approaching such complex stones, allowing faster and better clearance with a single puncture. The second paper in this section is from authors from the UK who set out to describe the frequency of renal symptoms and complications in patients with tuberous sclerosis complex, and to relate the history of renal haemorrhage with renal lesions identified on renal scan. OBJECTIVES To assess the efficacy of superior pole access for complex lower pole calyceal calculi. PATIENTS AND METHODS In all, 102 patients with complex inferior calyceal calculi were included in a prospective unrandomized study. Complex inferior calyceal calculi were defined as multiple calculi in two or more inferior calyces of the lower polar group, with each calyx draining through a separate infundibulum and at an acute angle to each other. In 33 patients (32%; group 1) an inferior calyceal puncture was made and in 69 (68%; group 2) access was obtained through a superior calyceal puncture. The stone-free rates, decrease in haemoglobin, operative duration, requirement for additional tracts and second procedures in the two groups were compared. RESULTS Stone clearance rates and blood loss values were better in group 2, although they were not significantly different. The mean operative duration, number of tracts required and the re-look procedure rate was significantly less in group 2. Two patients (3%) in group 2 had hydrothorax related to supracostal puncture and required chest tube insertion. CONCLUSIONS Superior calyceal puncture (supracostal or infracostal) affords optimum access to complex inferior calyceal stones, providing faster and better clearance with a single puncture, and less requirement for second-look procedures. [source]

An epidemiological study of renal pathology in tuberous sclerosis complex

BJU INTERNATIONAL, Issue 6 2004
Finbar J. O'Callaghan
OBJECTIVES To report the frequency of renal symptoms and complications of patients with tuberous sclerosis complex (TSC), to describe the ultrasonographic appearance of the kidneys in a population-based sample, and to investigate the relationship between a history of renal haemorrhage and renal lesions identified by ultrasonography. PATIENTS AND METHODS As part of an epidemiological study, 179 patients with TSC were identified as living in the Wessex Region in the South of England. Patients were interviewed and examined in their homes, to elicit the presence of renal symptoms or a history of renal complications. Renal ultrasonography was used in consenting patients in their homes. RESULTS There was a history of renal complications in 16 (9%) patients; 149 consented to interview and examination, and 19 gave a history of renal symptoms in the previous year; 124 had renal ultrasonography; 86 (69%) had renal angiomyolipomas and 37 (30%) had renal cysts. Large lesions (>3 cm in diameter) were strongly associated with a history of symptomatic bleeding, although significant haemorrhage occurred in a 6-year-old child with small angiomyolipomas. CONCLUSIONS The formation of angiomyolipoma in TSC is common. Polycystic kidney disease, renal carcinoma and renal failure, although rare, occur in TSC. Most patients with angiomyolipomas have neither complications nor symptoms. There was no appreciable difference between the sexes in the risk of developing these lesions. Although less commonly seen in the very young, there is no identifiable relationship after adolescence between age and the risk of having a renal angiomyolipoma. Bleeding tends to occur from large lesions (>3 cm) but most such patients have remained asymptomatic to date. [source]

Tubulointerstitial nephritis and uveitis (TINU) syndrome: a case report and review of the literature

ACTA OPHTHALMOLOGICA, Issue 6 2009
Veronica Holm Thomassen
Abstract. Purpose:, We aim to describe the first case of tubulointerstitial nephritis and uveitis (TINU) syndrome reported in Scandinavia and to underline the importance of the syndrome, which should be better known among ophthalmologists. Methods:, We report an 11-year-old boy who was admitted to hospital because of general fatigue and weight loss. Blood tests showed renal insufficiency and a renal biopsy revealed acute tubulointerstitial nephritis. One week after admission the patient developed transitory blurred vision and flickering shadows in the left eye. Slit-lamp examination revealed bilateral anterior non-granulomatous uveitis and TINU syndrome was diagnosed. Results:, Because of renal insufficiency the patient was treated with systemic prednisone 50 mg/day for 3 weeks. Evolution was favourable, and prednisone was tapered over 10 weeks. Uveitis was treated with topical steroid with good effect. The only complication after 18 months of follow-up was transitory cushingoid aspect. Conclusions:, Tubulointerstitial nephritis and uveitis syndrome is a rare syndrome that is probably underdiagnosed in clinical practice. Co-operation between ophthalmologists and nephrologists/paediatricians is crucial for early diagnosis and instigation of treatment. Uveitis may occur before tubulointerstitial nephritis or the renal symptoms may be so mild that the patient is unaware of them. Therefore, ophthalmologists play an important role in the initial discovery of patients with TINU syndrome. Tubulointerstitial nephritis tends to be self-limiting, whereas uveitis tends to relapse and recurrences tend to be more severe than the initial uveitis. Therefore, the patient must be ophthalmologically monitored very carefully. [source]