Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning difficulties and kidney disease, however the impairment of any organ may complicate the clinical picture. Here we report on clinical findings of 25 patients diagnosed with BBS. Our study is the first on a cohort of Romanian BBS patients, aiming to emphasize the complexity of the disease that may have a devastating impact on patients and their families. Thus, an early clinical diagnosis is crucial for anticipation of other system and organ involvement. Periodic follow up, by a multidisciplinary team, may prevent several severe complications, which could accelerate or aggravate the most deleterious aspects of the disease: loss of vision or renal impairment.

Over the last decade, several divergent views have been expressed regarding the effect that iodinated contrast agents may have on renal function. Evidence-based medicine often requires the recommendation of high-performance contrast-enhanced imaging exams for precise positive diagnosis. The fear of intravenous contrast use in patients with elevated serum creatinine seems to become an old dogma, outdated by the benefits of the procedures. Patients with glomerular filtration rate below 30 mL/min/1.73 m2 can be protected by peri-procedural hydration and withdrawal of other nephrotoxics. Whatever the degree of risk, current guidelines recommend contrast-enhanced investigations in any situations where the advantages for the diagnosis are certain.

The link between kidney damage and HT remains a challenge in medical research from a century when HT concept was defined, taking in consideration than HT is a major risk factor for cardiovascular disease morta-lity worldwide, due to the increasing prevalence, poor compliance to treatment and many complications[1-3]. The hypertensive nephrosclerosis is currently diagnosed in the latest stages of the disease because, for a long period of time, the injuries are compensated by kidney and therefore the clinical presentation is not specific[4]. The current diagnostic methods are non-specific, especially for early diagnosis of hypertensive nephrosclerosis, except the renal biopsy which is considered the gold standard but is rarely indicated in clinical routine due to its invasiveness and possible severe complications[5]. The pathogenic mechanism is complex and not very well understood but renal microcirculation impairment seems to be responsible for the onset and progression of this disease[6]. Therefore, any method that can accurately assess the early microvasculature changes of renal cortex, easy to use, simple and safe, with no invasiveness, could be an important diagnostic tool in hypertensive nephrosclerosis approach. [...]

Native arteriovenous fistulae (AVF) are the best options for chronic hemodialysis (HD) access. Unfortunately, not every patient fulfils the requirements necessary for this type of vascular access: the artery and the vein implicated in dialysis fistula creation must accomplish some criteria which makes them suitable for this procedure. If these criteria are not fully met, the chances to a successfully intervention and a quick and qualitative maturation of the fistula are dropping [1-5]. An artery that is suitable for AVF creation has an inner diameter > 2 mm, optimal initial flow and elastic walls allowing dilatation to accommodate a supplementary 10 - 20 fold blood flow increase after the AVF is performed [1,2,5-11]. The participating vein must be superficial enough (less than 5 mm from the skin surface), wide enough (a caliber bigger than 2.5 mm) and its walls must allow important dilatation (without fibrosis, injuries, and thickenings). In elderly, diabetics or patients with late initiation of HD some of these demands are frequently absent we need to adapt surgical procedures, taking advantage of any oppor tunity to overcame shortcomings and create a native dialysis access [1,2,5,9].

The prevalence of end stage renal disease (ESRD) is constantly increasing in worldwide population, as is the necessity of renal replacement therapy [1-3]. The improvements in dialysis techniques determined increasing quality and lifetime of dialysis patients and the need for a reliable vascular access that sustains the procedure for long periods of time. On the other hand, the progressive aging of dialyzed population and the emerging complications, as well as the rising prevalence of diabetes as a cause for chronic kidney disease (CKD), hampers the processes of obtaining and maintaining an adequate vascular access [1,4,5].

Digestive manifestations due to uremia and uremic toxins are multiple in patients with chronic kidney disease (CKD) on hemodialysis (HD). As much as 79 percent of these patients report gastrointestinal symptoms manifested as nausea, vomiting, dry mouth, dysgeusia, halitosis, pyrosis, abdominal pain, bloating, diarrhea (1,2). Due to many pathogenic mechanisms, the prevalence of gastro-duodenal peptic ulcer disease is higher in HD subjects than in general population, but comparable in frequency with nondialyzed CKD patients (3-5). A recent published 10 years-study presented that the incidence of peptic ulcer disease is 4 times higher in patients with CKD and 9.4 times higher in individuals on chronic HD compared to the general population (6). Regarding localization, gastric ulcers are twice more frequent documented than duodenal ulcers (6-8). An imbalance between protective and aggressive mucosal factors in favor of the last ones is noticed in HD patients. Chronic dialysis stress, intradialysis hypotension (causing mucosal hypo-perfusion), anemia, intra-dialysis anticoagulant, metabolic acidosis, potentially ulcerogenic medication (steroids, non-steroid anti-inflammatory and antiplatelet drugs) lead to high frequencies of peptic ulcer disease (9). Since the appearance of ulcerous lesions, the risk of their complications (e.g.: hemorrhages, perforations, penetrating injuries) is much higher than in general population. One recent cohort study in Taiwan showed that the incidence of gastro-duodenal bleedings is double in CKD patients and 5 times higher in HD ones (2). Subsequently, common comorbidities such as diabetes, liver cirrhosis and ischemic heart disease participate as pathogens in digestive bleedings (10).
An adequate diagnosis and monitoring of peptic ulcer disease in dialysis patients represent a constant concern of our clinical practice, because of the high prevalence of this kind of pathology, the life-threatening potential complications and the complexity of the treatment. Therefore, further on we discuss the case of an atypical peptic ulcer disease in a chronic HD patient.

Patients with chronic renal disease frequently display eso-gastro-duodenal associated pathology: anorexia, heartburn, nausea, vomiting, abdominal pain, gastric motility disorder so far as gastroparesis
some of these symptoms decline once the substitution therapy of the renal function is initiated through hemodialysis, and some persist because of the interdialytic metabolic acidosis, used anticoagulant in dialysis or complementary therapies.
The most severe clinical manifestation is superior digestive hemorrhage, with multiple intricate causes (mucosal lesions induced by gastrin, angiodysplasia including GAVE - gastric antral vascular ectasia, treatments with lesion potential - NSAIDs, corticoids, oral iron drugs, mucosa inflammation under uremic toxins or oxygen radicals, gastric and intestinal wall edema due to interdialytic hypervolemia, malnutrition). The gastric hyperacidity induced injuries in renal patients are often esophagitis, gastritis, duodenitis and gastro-duodenal ulcer.

Hypertension, diabetes mellitus, dyslipidaemia are frequently encountered in patients with chronic kidney disease (CKD) (1). They are the major risk factors for the development and progression of the endothelial dysfunction and atherosclerosis and contribute to the progression of renal failure (1). Microalbuminuria increases to two- to four-fold the cardiovascular risk (1). It is also a quantitative association between glomerular filtration rate (GFR) and cardiovascular risk (1). The risk increase to two to four-fold in stage 3 of CKD (GFR 30-59 mL/min/1.73 m²), four- to 10-fold in stage 4 (GFR 15-29 mL/min/1.73 m²) and 10- to 50-fold in stage 5 renal failure (GFR <15 mL/min/1.73 m² OR dialysis) in comparison with persons free of CKD (1). Atherosclerosis with intimal involvement and Moenckeberg’s media sclerosis are the main cardiovascular determinations in CKD. Coronary artery calcifications attain the highest levels in young adults patients with renal failure and dialysis, as has been shown in angiographic studies (2). These patients have many coronary risk factors leading to intimal calcifications and these are coexisting with medial calcification founded only in CKD (2). The degree of coronary artery calcifications seems to be related to the estimated GFR in a multivariate analysis (2). KDIGO guidelines recommend that patients with CKD stages 3-5D with known vascular/valvular calcification be considered at highest cardiovascular risk (class 2A recommendations) (3).