Von Hippel-Lindau disease simulating polycystic kidney disease

Polycystic kidney disease and the renal manifestations of von Hippel-Lindau disease have much in common. Making the distinction between these two diseases is important. There is a strong association of renal cell carcinoma with von Hippel-Lindau disease, whereas renal cell carcinoma is rare in polycystic kidney disease. Furthermore, the many extrarenal manifestations of von Hippel-Lindau disease are serious and can be fatal while those of polycystic kidney disease are generally benign. Early diagnosis of the lesions of von Hippel-Lindau disease could lead to effective surgical treatment and prevent death. A case of von Hippel-Lindau disease is presented which was incorrectly diagnosed as polycystic kidney disease for sixteen years. The case is instructive in that the possibility of making the correct diagnosis prior to the patient's terminal illness was only through careful assessment of the family. The case is also remarkable in that the patient suffered from progressive renal failure requiring hemodialysis, which has not been associated previously with von Hippel-Lindau disease.     

Homocysteine and cardiovascular disease in renal disease

Elevated homocysteine (hyperhomocysteinaemia) in renal patients is a major concern for physicians. Although cause and effect between homocysteine and cardiovascular disease (CVD) has not been established in either the general population or renal patients, there is much evidence that this relationship does exist. Purported mechanisms that may explain this effect include increases in endothelial injury, smooth muscle cell proliferation, low-density lipoprotein oxidation and changes in haemostatic balance. Renal patients have a much greater incidence of hyperhomocysteinaemia and this may be explained by decreases in either the renal or extrarenal metabolism of the compound. We conclude that data from long-term placebo-controlled trials are urgently required to determine whether hyperhomocysteinaemia in renal patients is a cause of CVD events and requires therapeutic targeting.     

Associated neoplastic disease in inflammatory bowel disease

The development of intestinal carcinoma in the setting of inflammatory bowel disease (IBD) has been recognized as an unsavory outcome of chronic inflammation of the bowel. Numerous studies have recently documented the clinical and morphologic features of malignant transformation in this closely-followed group of patients. This article highlights the recent findings of these population-based studies with specific attention to surgical concepts and frames these data in the context of surgical approaches to cancer arising in inflammatory disease. Specifically, the authors address the pathobiology of malignant transformation, the management of colorectal cancer in inflammatory bowel disease, the development of dysplasia in ulcerative colitis, surveillance of patients who have IBD, chemoprevention of cancer, and special features of surgical oncologic management.     

Metabolic bone disease in chronic kidney disease

Metabolic bone disease is a common complication of chronic kidney disease (CKD) and is part of a broad spectrum of disorders of mineral metabolism that occur in this clinical setting and result in both skeletal and extraskeletal consequences. Detailed research in that past 4 decades has uncovered many of the mechanisms that are involved in the initiation and maintenance of the disturbances of bone and mineral metabolism and has been translated successfully from "bench to bedside" so that efficient therapeutic strategies now are available to control the complications of disturbed mineral metabolism. Recent emphasis is on the need to begin therapy early in the course of CKD. Central to the assessment of disturbances in bone and mineral metabolism is the ability to make an accurate assessment of the bone disease by noninvasive means. This remains somewhat problematic, and although measurements of parathyroid hormone are essential, recently recognized difficulties with these assays make it difficult to provide precise clinical practice guidelines for the various stages of CKD at the present time. Further research and progress in this area continue to evaluate the appropriate interventions to integrate therapies for both the skeletal and extraskeletal consequences with a view toward improving patient outcomes.     

Multicentric Castleman's disease mimicking adult-onset Still's disease

Castleman's disease is a rare lymphoproliferative disorder having two types of presentation: the localized and the multicentric form. Multicentric Castleman's disease (MCD) typically presents with constitutional symptoms, generalized peripheral lymphadenopathy, hepatosplenomegaly, and laboratory markers of inflammation. Rash and arthritis may also be initial complaints of this disease. In these cases, MCD can resemble adult-onset Still's disease (AOSD), especially if the arthritis precedes other manifestations.We describe a patient with initial clinical suspicion of AOSD. Eighteen months later evidence of MCD was ascertained when the patient developed insidiously growing axillary lymphadenopathies. Despite its rarity, MCD should be borne in mind in the differential diagnosis of patients with suspicion of AOSD.     

Differential diagnosis of hip disease versus spine disease

Many clinicians find it difficult to differentiate between symptoms caused by a spine disorder or a hip disorder. If surgery is indicated, the order in which these operations take place is an important factor in the patient's long-term outcome. A prospective evaluation and retrospective chart review of patients with lower extremity pain was performed at the principal investigator's clinic to determine which signs and symptoms best predict the primary source of pain in patients with hip and spine disorders. Medical histories, physical examinations, and diagnostic tests were done on 97 patients with lower extremity pain to determine which signs and symptoms were the best predictors of a primary source of the pain (a hip or a spine disorder). The presence of a limp, groin pain, or limited internal rotation of the hip significantly predicted the diagnosis of a disorder as originating primarily from the hip, as opposed to originating from the spine. Patients with a limp were seven times more likely to have a hip disorder only or a hip and spine disorder than a spine only disorder. Similarly, patients with groin pain or limited internal rotation of the hips were seven and 14 times, respectively, more likely to have a hip disorder only or a hip and spine disorder than a spine only disorder. These variables are of primary importance to the clinician when making a differential diagnosis between hip disease and spine disease.     

Inflammatory bowel disease: an impaired barrier disease

Background

The intestinal barrier is a delicate structure composed of a single layer of epithelial cells, the mucus, commensal bacteria, immune cells, and antibodies. Furthermore, a wealth of antimicrobial peptides (AMPs) can be found in the mucus and defend the mucosa. Different lines of investigations now point to a prominent pathophysiological role of defensins, an important family of AMPs, in the pathogenesis of inflammatory bowel disease and, particularly, in small intestinal Crohn’s disease.

Purpose

In this review, we introduce the different antimicrobial peptides of the intestinal mucosa and describe their function, their expression pattern along the gastrointestinal tract, and their spatial relationship to the mucus layer. We then focus on the alterations found in inflammatory bowel disease. Small intestinal Crohn’s disease (CD) is closely linked to defects in Paneth cells (specialized secretory epithelial cells at the bottom crypts) which secrete α-defensin human defensin (HD)-5 in huge quantities in healthy individuals. Decreased expression of these antimicrobial peptides is found in ileal CD, and single nucleotide polymorphisms with the highest linkage to CD affect genes involved in Paneth cell biology and defensin secretion. Additionally, antimicrobial peptides have a role in ulcerative colitis, where the depleted mucus layer cannot fulfill its crucial function of binding defensins and other AMPs to their proper site of action.

Conclusion

Inflammatory bowel disease arises when the mucosal barrier is compromised in its defense against challenges from the intestinal microbiota. In ileal CD, a strong association can be found between diminished expression or defective function of defensins and the advent of intestinal inflammation.     

Surgery of aortic disease with coronary heart disease

From 1978 through 1989, 1200 patients underwent attempted coronary surgery. Seventy-six CABG-patients were recognized aorto-vascular disease. Thirty-one CABG-patients were operated with vascular surgery. Operative mortality of CABG was 0% (0/76). Operative mortality of vascular surgery was 3.2% (1/31). Total operative mortality was 1.1% (1/91).     

Cardiovascular disease in children with chronic kidney disease

In children with end-stage renal disease (ESRD), cardiovascular disease (CVD) mortality has not changed for the past 3 decades. Cardiac disease remains the second most common cause of death. Recent data demonstrate a high incidence and prevalence of traditional and chronic kidney disease (CKD)-related CVD risk factors in children. Early markers of cardiomyopathy, such as left ventricular hypertrophy (LVH) and left ventricular dysfunction (LV dysfunction), and early markers of atherosclerosis, such as increased carotid artery intima-media thickness (IMT) and carotid arterial wall stiffness, are frequently found in this patient population. Early identification of modifiable risk factors and treatment of asymptomatic CVD might lead to decrease of cardiovascular morbidity and mortality in young adults who developed CKD during childhood.     

Inflammatory gastrointestinal disease presenting as genitourinary disease.

Chronic inflammatory bowel disease, diverticulitis, and appendicitis may be complicated by genitourinary tract problems. Patients with these diseases occasionally present with a genitourinary problem as an initial complaint prior to diagnosis of the underlying primary bowel disease. The correct diagnosis in these difficult cases will be arrived at sooner if the genitourinary manifestations of inflammatory diseases of the bowel are actively considered.     

Cardiovascular disease in children with chronic kidney disease

More than a decade ago, cardiovascular disease (CVD) was recognized as a major cause of death in children with advanced CKD. This observation has sparked the publication of multiple studies assessing cardiovascular risk, mechanisms of disease, and early markers of CVD in this population. Similar to adults, children with CKD have an extremely high prevalence of traditional and uremia-related CVD risk factors. Early markers of cardiomyopathy, such as left ventricular hypertrophy and dysfunction, and early markers of atherosclerosis, such as increased carotid artery intima-media thickness, carotid arterial wall stiffness, and coronary artery calcification, are frequently present in these children, especially those on maintenance dialysis. As a population without preexisting symptomatic cardiac disease, children with CKD potentially receive significant benefit from aggressive attempts to prevent and treat CVD. Early CKD, before needing dialysis, is the optimal time to both identify modifiable risk factors and intervene in an effort to avert future CVD. Slowing the progression of CKD, avoiding long-term dialysis and, if possible, conducting preemptive transplantation may represent the best strategies to decrease the risk of premature cardiac disease and death in children with CKD.