Hereditary thrombotic thrombocytopenic purpura (TTP) with co-occurring autosomal dominant polycystic kidney disease (ADPKD).

Hereditary thrombotic thrombocytopenic purpura (TTP) and autosomal dominant polycystic kidney disease (ADPKD) are two distinct genetic diseases that may affect the kidneys through different mechanisms. ADPKD is a common genetic disorder that leads to exponential formation and growth of cysts replacing all segments of nephrons. Hereditary TTP is a rare autosomal recessive disorder that leads to the disseminated formation of arteriolar platelet-rich thrombi, which produce manifestations of various organs dysfunction. We present a case of a pregnant female with hereditary TTP co-occurring with ADPKD. To our knowledge, this is the first case in the literature describing the co-occurrence of ADPKD and hereditary TTP. We aim to describe the clinical course including the renal and the pregnancy outcomes, describe the consanguinity and family history, and try to explain the potential effect of one disease on the clinical course of the other.

Nephrologists' Perspectives of the Potential Utilization of Home Hemodialysis in Saudi Arabia.

Home hemodialysis (HD) is an attractive renal replacement modality that has been shown to provide several benefits to the patient and health-care system. However, home HD programs have not been well-established in Saudi Arabia. We aimed to explore the perspectives of adult nephrology consultants in Saudi Arabia about the potential utilization of home HD via a survey-based cross-sectional study. The survey was distributed via email to all adult nephrology consultants practicing in Saudi Arabia and registered in the Saudi Society of Nephrology and Transplantation. Out of 236 invited consultants, 151 (64%) participated in the study. Half of the participants defined home HD as a trained patient who can independently perform his/her HD sessions at home. Eighty-one (54%) consultants have never managed a patient on home HD during their nephrology training period. More than 70% of participants believed that home HD provides advantages over in-center HD, and that its utilization in Saudi Arabia would be feasible. Although 40% of participants worked in centers with no accredited nephrology training program, most of the remaining participants believed that the local training program did not provide enough teaching about home HD to trainees. Patients' refusal, the nephrologists' lack of motivation and experience, a lack of administrative support, and the lack of infrastructure and nursing support were identified by most participants as the major barriers to the utilization of home HD in Saudi Arabia. Addressing these barriers would be the first step to facilitate initiatives aiming to establish home HD programs in this country.

Let Us Listen to Patients: Underutilization of Peritoneal Dialysis from Patients' Perspectives.

Despite the fact that many of the medical outcome data of peritoneal dialysis (PD) have been improving over the past few years, PD remains an underutilized modality in many countries worldwide. Most nephrologists in those countries report a high rate of patients' refusal. We conducted this survey-based study to determine the obstacles behind underutilization of PD in Saudi Arabia from patients' perspectives and to understand the reasons for their refusal. Nine-hundred and twenty hemodialysis (HD) patients, who had never been on PD before, participated in this study. Responses obtained from patients indicate that their refusal of PD could be because they had not received proper counseling and education about PD from their treating nephrologists throughout the course of their disease.

Barriers to Peritoneal Dialysis in Saudi Arabia: Nephrologists' Perspectives.

In Saudi Arabia, only 9% of dialysis patients are on peritoneal dialysis (PD), and this has been the case for years. A number of centers around the world have sought to understand the underutilization of PD by asking nephrologists directly. In this study, we aimed to gather information that will answer the question "Why is PD underutilized in Saudi Arabia?" hoping that a roadmap may be developed to overcome the hurdles the study underscores, allowing for more patients to utilize this valuable modality.

Primary and Secondary Thrombotic Microangiopathy Referred to a Single Plasma Exchange Center for Suspected Thrombotic Thrombocytopenic Purpura: 2000-2011.

BACKGROUND: Patients who present with unexplained thrombocytopenia, that is, hemolytic anemia with end-organ dysfunction with a normal coagulation profile are suspected to have thrombotic thrombocytopenic purpura (TTP) and are usually referred to a plasma exchange (PE) center for immediate treatment to prevent mortality. Here, we describe the distribution and outcomes of patients with suspected TTP referred to a single center for PE therapy. METHODS: In this retrospective cohort study, we reviewed the data of all consecutive patients who were treated with PE for suspected TTP at our center between January 2000 and December 2011 (Canada). Patients were followed for a median of 73 months. RESULTS: Of 137 patients, 70 (51%) were determined to have primary (idiopathic) TTP and 67 (49%) secondary TTP or hemolytic uremic syndrome (HUS). Patients with primary TTP were twice as likely to be refractory than those with secondary TTP or HUS: 27 vs. 12%; p = 0.03. Patients with primary TTP were more likely to experience remission (61/70 (87%) vs. 45/67 (67%); p = 0.01); however, the relapse rate was higher in patients with primary versus secondary TTP-HUS: 11 vs. 1.5%, respectively (p = 0.03). The overall mortality rate was 23% (13 vs. 33% in those with primary vs. secondary TTP-HUS; p = 0.007). After excluding deaths from scleroderma renal crisis (100% mortality), malignancy (75% mortality) and stem cell transplant (50% mortality), the survival rate for secondary TTP was 85%. CONCLUSIONS: In contrast to patients with secondary TTP or HUS, those with primary TTP have a higher refractory and relapse rate, but are also more likely to achieve remission and survive.

Patients' quality of life after stopping plasma exchange: a pilot study.

BACKGROUND: Plasma exchange is being widely used to treat various serious medical conditions. There has been very little follow-up data to describe the quality of life (QOL) of plasma exchange-recipients after active plasma exchange has stopped. OBJECTIVE: To assess the QOL of plasma exchange recipients after stopping plasma exchange. METHODS: A pilot study, based on responses to a postal questionnaire and clinical data obtained from the patients' charts, was carried out. The scores were computed from questionnaire responses and analyzed. RESULTS: The response rate was 59% with 58 patients completing a questionnaire three months after their final plasma exchange therapy. We identified significant heterogeneity in the quality of life of plasma exchange recipients after stopping plasma exchange therapy. This could be driven by different patient co-morbidities. We recommend that during follow up visits, a multi-disciplinary approach including consultation with a social worker might be considered for patients who may continue to have some limitations in their psychosocial activities post-discontinuation of plasma exchange. The high response rate to the questionnaire indicates that PLEX patients are interested in being involved in QOL studies, which suggests potential support for a prospective study of QOL with pre and post questionnaires and more detailed tracking of baseline co-morbidities.

Successful use of posaconazole to treat invasive cutaneous fungal infection in a liver transplant patient on sirolimus.

Fungi are an important and common cause of cutaneous infections affecting solid organ transplant recipients. These infections can represent a primary site of infection with the potential for dissemination, or a manifestation of metastatic infection. The high morbidity and mortality associated with these infections necessitates urgent therapy with antifungal drugs; however, the interaction between these drugs and immunosuppressive therapies can be a major limitation because of drug toxicity. A case of soft tissue infection of the toe caused by Fusarium chlamydosporum and Candida guilliermondii in a liver transplant patient on sirolimus, who was successfully treated with the new antifungal agent posaconazole, is described. The pharmacokinetic interactions of sirolimus and the new triazoles, and their impact on treatment choices are briefly discussed.

Les champignons sont une cause importante et courante d'infections cutanées chez les greffés d'un organe plein. Ces infections peuvent constituer un foyer primaire d'infection ayant le potentiel de se disséminer ou une manifestation d'infection métastatique. Le fort taux de morbidité et de mortalité associé à ces infections exige un traitement urgent aux antifongiques, mais l'interaction entre ces médicaments et les immunosuppresseurs peut constituer une importante limite en raison de la toxicité des médicaments. Est décrit le cas d'un greffé du foie atteint d'une infection des tissus mous de l'orteil causée par un Fusarium chlamydosporum et un Candida guilliermondii qui prenait du sirolimus et qui a subi un traitement fructueux au posaconazole, un nouvel antifongique. Les auteurs abordent brièvement les interactions pharmacocinétiques du sirolimus et des nouveaux triazoles, ainsi que leurs répercussions sur les choix thérapeutiques.