Adult Nephrology Research Articles

Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports.

Inherited kidney diseases (IKDs) are among the leading causes of early-onset chronic kidney disease (CKD) and are responsible for at least 10–15% of cases of kidney replacement therapy (KRT) in adults. Paediatric nephrologists are very aware of the high prevalence of IKDs among their patients, but this is not the case for adult nephrologists. Recent publications have demonstrated that monogenic diseases account for a significant percentage of adult cases of CKD. A substantial number of these patients have received a non-specific/incorrect diagnosis or a diagnosis of CKD of unknown aetiology, which precludes correct treatment, follow-up and genetic counselling. There are a number of reasons why genetic kidney diseases are difficult to diagnose in adulthood: (i) adult nephrologists, in general, are not knowledgeable about IKDs; (ii) existence of atypical phenotypes; (iii) genetic testing is not universally available; (iv) family history is not always available or may be negative; (v) lack of knowledge of various genotype–phenotype relationships and (vi) conflicting interpretation of the pathogenicity of many sequence variants. Registries can contribute to visualize the burden of IKDs by regularly grouping all IKDs in their annual reports, as is done for glomerulonephritis or interstitial diseases, rather than reporting only cystic disease and hiding other IKDs under labels such as ‘miscellaneous’ or ‘other’. Any effort to reduce the percentage of patients needing KRT with a diagnosis of ‘nephropathy of unknown etiology’ or an unspecific/incorrect diagnosis should be encouraged as a step towards precision nephrology. Genetic testing may be of value in this context but should not be used indiscriminately, but rather on the basis of a deep knowledge of IKDs.

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families

Genetic testing in nephrology clinical practice has moved rapidly from a rare specialized test to routine practice both in pediatric and adult nephrology. However, clear information pertaining to the likely outcome of testing is still missing. Here we describe the experience of the accredited Australia and New Zealand Renal Gene Panels clinical service, reporting on sequencing for 552 individuals from 542 families with suspected kidney disease in Australia and New Zealand. An increasing number of referrals have been processed since service inception with an overall diagnostic rate of 35%. The likelihood of identifying a causative variant varies according to both age at referral and gene panel. Although results from high throughput genetic testing have been primarily for diagnostic purposes, they will increasingly play an important role in directing treatment, genetic counseling, and family planning.

Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are characterized by bilateral cystic kidney disease leading to progressive kidney function decline. These diseases also have distinct liver manifestations. The range of clinical presentation and severity of both ADPKD and ARPKD is much wider than was once recognized. Pediatric and adult nephrologists are likely to care for individuals with both diseases in their lifetimes. This article will review genetic, clinical, and imaging predictors of kidney and liver disease progression in ADPKD and ARPKD and will briefly summarize pharmacologic therapies to prevent progression.

Low serum total CO2 and its association with mortality in patients being followed up in the nephrology outpatients clinic

Large-scale studies have not been conducted to assess whether serum hypobicarbonatemia increases the risk for kidney function deterioration and mortality among East-Asians. We aimed to determine the association between serum total CO2 (TCO2) concentrations measured at the first outpatient visit and clinical outcomes. In this multicenter cohort study, a total of 42,231 adult nephrology outpatients from 2001 to 2016 were included. End-stage renal disease (ESRD) patients on dialysis within 3 months of the first visit were excluded. Instrumental variable (IV) was used to define regions based on the proportion of patients with serum TCO2 < 22 mEq/L. The crude mortality rate was 12.2% during a median 77.0-month follow-up period. The Cox-proportional hazard regression model adjusted for initial kidney function, alkali supplementation, and the use of diuretics demonstrated that low TCO2 concentration was not associated with progression to ESRD, but significantly increased the risk of death. The IV analysis also confirmed a significant association between initial TCO2 concentration and mortality (HR 0.56; 95% CI 0.49–0.64). This result was consistently significant regardless of the underlying renal function. In conclusion, low TCO2 levels are significantly associated with mortality but not with progression to ESRD in patients with ambulatory care.

Adapting Nephrology Training Curriculum in the Era of COVID-19.

Purpose of review:The COVID-19 pandemic has widespread implications not only for clinical practice but also for academic medicine and postgraduate training. The need to promote physical distancing and flexibility within our department has generated important revisions to the core curriculum for the Adult Nephrology Training Program in Vancouver, Canada.Sources of information:We reviewed available educational resources and objectives to develop curricular adaptations informed by staff and trainee feedback.Methods:Many facets of the program including clinical rotations, scholarly activities, evaluation, and wellness have been impacted, and thus revised for online delivery where possible. Trainees have personalized a learning plan based on individual goals and supplemented by a list of internet-based resources for independent review. Changes in learning objectives and methods for specific rotations have occurred and are described. Ongoing evaluation will be undertaken.Key findings:Curriculum adaptation in the era of COVID-19 is necessary to ensure ongoing high-quality education for future nephrologists. We describe existing changes to formal training in British Columbia (BC), which will be tailored as the pandemic evolves, and anticipate them to have lasting impact on the way we structure training programs in the future. Standardization and harmonization of modified curriculum may be possible across Canada with sharing of these learnings.Limitations:Formal evaluation of these changes in terms of knowledge acquisition and examination performance has not yet been undertaken. Next steps will include assessing and documenting the impact of this curricular transformation to further optimize scheduling, educational yield, and trainee wellness.

Treatment and long-term outcome in primary nephrogenic diabetes insipidus.

Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome. Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form. Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0-60) years and at last follow-up 14.0 (0.1-70) years. In adults, height was normal with a mean (standard deviation) score of -0.39 (±1.0), yet there was increased prevalence of obesity (body mass index >30 kg/m2; 41% versus 16% European average; P < 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P < 0.001) received medications to reduce urine output. Patients ≥25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients. This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems.

Global Dialysis Perspective: South Africa.

South Africa is an upper middle–income country with a population of 59.6 million people (1). Gauteng is the most densely populated province, and houses 26% of the population, followed by KwaZulu-Natal (19%), and the Western Cape (12%). About 29% of the population are <15 years old and 9% are ≥60 years. Approximately 13% of the population are seropositive for HIV. Life expectancy is estimated at 68.5 years for females and 62.5 years for males, whereas the infant mortality rate is 23.6 per 1000 live births. In 2019, the gross national income per capita was approximately $6040 (Atlas method, current US$), with 8% of the country’s gross domestic product spent on health care (2). Despite the transition to democracy in 1994, a high level of inequality remains, reflected in a Gini coefficient of 0.63 and an unemployment rate of 30% (2,3). This inequality is also reflected in a two-tiered health system. Access to a well-resourced private health care sector depends on the ability to pay for services, usually via medical insurance. Treatment for CKD is included in the set of “prescribed minimum benefits” that all registered medical insurance schemes in South Africa are obliged to provide for their members. The majority of South Africans (84%), however, are dependent on an under-resourced, government-funded, public health care sector. Public health care facilities use a sliding scale, where the fees charged are dependent on income. Indigent patients are able to access services free of charge (4). South Africa is faced with a high burden of infectious diseases (such as tuberculosis and HIV infection), noncommunicable diseases, maternal and childhood diseases, and injury-related diseases (5). These factors drive an epidemic of AKI and CKD. Two studies have estimated the population prevalence of CKD in South Africa. Adeniyi et al. (6) reported the …

Pediatric onco-nephrology: time to spread the word : Part I: early kidney involvement in children with malignancy.

Onco-nephrology has been a growing field within the adult nephrology scope of practice. Even though pediatric nephrologists have been increasingly involved in the care of children with different forms of malignancy, there has not been an emphasis on developing special expertise in this area. The fast pace of discovery in this field, including the development of new therapy protocols with their own kidney side effects and the introduction of the CD19-targeted chimeric antigen receptor T cell (CAR-T) therapy, has introduced new challenges for general pediatric nephrologists because of the unique effects of these treatments on the kidney. Moreover, with the improved outcomes in children receiving cancer therapy come an increased number of survivors at risk for chronic kidney disease related to both their cancer diagnosis and therapy. Therefore, it is time for pediatric onco-nephrology to take its spot on the expanding subspecialties map in pediatric nephrology.

Long-term psychosocial outcomes of adults transplanted in childhood: A social work perspective.

While much research exists regarding medical outcomes for pediatric end stage renal disease (ESRD) populations and for adults receiving dialysis or kidney transplant, the understanding of long-term psychosocial outcomes for individuals diagnosed with ESRD or transplanted in childhood remains limited. A literature review was undertaken by two social work researchers to identify relationship, education, employment, and quality of life (QOL) outcomes for this population utilizing PUBMED and PsycInfo databases. Inconsistencies in the MeSH terms and keywords used across the relevant articles were noted. The impact of transplantation in childhood is significant across multiple facets of social development including but not limited to peer/intimate relationships, education and employment and QOL, and overall well-being. When compared to healthy peers, those with ESRD were delayed in all areas of social development. While improvements in psychosocial outcomes have occurred alongside improved graft and patient survival, more focused longitudinal and qualitative inquiry is needed. Partnerships are needed across disciplines and across those caring for different age cohorts in pediatric, adult nephrology, and transplant practices.

From Theory to Reality: Establishing a Successful Kidney Genetics Clinic in the Outpatient Setting.

Genetic testing in nephrology is increasingly described in the literature and several groups have suggested significant clinical benefit. However, studies to date have described experience from established genetic testing centers or from externally funded research programs. We established a de novo kidney genetics clinic within an academic adult general nephrology practice. Key features of this effort included a pipeline for internal referrals, flexible scheduling, close coordination between the nephrologist and a genetic counselor, and utilization of commercial panel-based testing. Over the first year, we examined the outcomes of genetic testing, the time to return of genetic testing, and out-of-pocket cost to patients. Thirty patients were referred and 23 were evaluated over the course of five clinic sessions. Nineteen patients underwent genetic testing with new diagnoses in nine patients (47%), inconclusive results in three patients (16%), and clearance for kidney donation in two patients (11%). On average, return of genetic results occurred 55 days (range 9-174 days) from the day of sample submission and the average out-of-pocket cost to patients was $155 (range $0-$1623). We established a kidney genetics clinic, without a pre-existing genetics infrastructure or dedicated research funding, that identified a new diagnosis in approximately 50% of patients tested. This study provides a clinical practice model for successfully incorporating genetic testing into ambulatory nephrology care with minimal capital investment and limited financial effect on patients.

Cystinuria: clinical practice recommendation

Cystinuria (OMIM 220100) is an autosomal recessive hereditary disorder in which high urinary cystine excretion leads to the formation of cystine stones because of the low solubility of cystine at normal urinary pH. We developed clinical practice recommendation for diagnosis, surgical and medical treatment, and follow-up of patients with cystinuria. Elaboration of these clinical practice recommendations spanned from June 2018 to December 2019 with a consensus conference in January 2019. Selected topic areas were chosen by the co-chairs of the conference. Working groups focusing on specific topics were formed. Group members performed systematic literature review using MEDLINE, drafted the statements, and discussed them. They included geneticists, medical biochemists, pediatric and adult nephrologists, pediatric and adult urologists experts in cystinuria, and the Metabolic Nephropathy Joint Working Group of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN members. Overall 20 statements were produced to provide guidance on diagnosis, genetic analysis, imaging techniques, surgical treatment (indication and modalities), conservative treatment (hydration, dietetic, alkalinization, and cystine-binding drugs), follow-up, self-monitoring, complications (renal failure and hypertension), and impact on quality of life. Because of the rarity of the disease and the poor level of evidence in the literature, these statements could not be graded. This clinical practice recommendation provides guidance on all aspects of the management of both adults and children with cystinuria, including diagnosis, surgery, and medical treatment.

Current State and Future of Private Practice Nephrology in the United States.

Chronic kidney disease remains highly prevalent and exerts a heavy economic burden. The practice of nephrology has come a long way in managing this disease, though there remains room for improvement. The private domain, where more than half of the adult nephrology workforce operates, faces serious challenges. Interest has decreased in the field, leading to diminished recruitment. There has been a reduction in both reimbursement rates and revenues. We discuss the current state of private practice nephrology and strategies to reinvigorate our discipline. There needs to be a focus on preparing fellows during training not only for academic careers, but also for effective functioning in the environment of private practice and development of pathways for growth. We believe that private practice nephrology must expand its frontiers to be fulfilling professionally, challenging academically, and successful financially. The United States government has recently announced the Advancing American Kidney Health Executive Order which seeks to prioritize optimal treatments for patients with kidney disease. We are optimistic that there is a renaissance afoot in nephrology and that our field is in the process of rediscovering itself, with its best days yet to come.

Monitoring skin temperature at the wrist in hospitalised patients may assist in the detection of infection.

BackgroundMeasuring temperature has always been a key observation in the diagnosis of infection. No studies have examined the usefulness of measuring temperature at the wrist to detect infection.AimWe sought to determine whether a watch measuring wrist temperature could accurately identify patients who are infected.MethodsProspective cross‐sectional pilot study of temperature monitoring in an unselected patients in a tertiary referral adult nephrology unit.ResultsOne hundred and four data recording sessions revealed 88 useful data sets, with recording failures in the others. Patients were retrospectively classified as having no infection (Group A, n = 60), clinically diagnosed infection with less than 24 h of treatment with antibiotics (Group B, n = 5), and clinically diagnosed infection with greater than 24 h on antibiotics (Group C, n = 23). There was a significantly higher average maximum temperature in Group B (mean (SEM)) 38°C (0.6) compared with Groups A (36.1°C (0.1)) and C (36.3°C (0.3)). Based on receiver operating characteristics (ROC) a cut‐off temperature of ≥37.5°C gave sensitivity 80% and specificity 98%. Mean electrodermal activity was significantly higher in Groups B and C.ConclusionsROC of peripheral skin temperature measurements suggest that such a device may identify many patients requiring treatment for infection. This proof of principle study showed value in using a wearable device in the detection of infection and its potential as an early warning or monitoring device.

Pilot Study of Return of Genetic Results to Patients in Adult Nephrology.

Actionable genetic findings have implications for care of patients with kidney disease, and genetic testing is an emerging tool in nephrology practice. However, there are scarce data regarding best practices for return of results and clinical application of actionable genetic findings for kidney patients. We developed a return of results workflow in collaborations with clinicians for the retrospective recontact of adult nephrology patients who had been recruited into a biobank research study for exome sequencing and were identified to have medically actionable genetic findings. Using this workflow, we attempted to recontact a diverse pilot cohort of 104 nephrology research participants with actionable genetic findings, encompassing 34 different monogenic etiologies of nephropathy and five single-gene disorders recommended by the American College of Medical Genetics and Genomics for return as medically actionable secondary findings. We successfully recontacted 64 (62%) participants and returned results to 41 (39%) individuals. In each case, the genetic diagnosis had meaningful implications for the patients' nephrology care. Through implementation efforts and qualitative interviews with providers, we identified over 20 key challenges associated with returning results to study participants, and found that physician knowledge gaps in genomics was a recurrent theme. We iteratively addressed these challenges to yield an optimized workflow, which included standardized consultation notes with tailored management recommendations, monthly educational conferences on core topics in genomics, and a curated list of expert clinicians for patients requiring extranephrologic referrals. Developing the infrastructure to support return of genetic results in nephrology was resource-intensive, but presented potential opportunities for improving patient care. This article contains a podcast at https://www.asn-online.org/media/podcast/CJASN/2020_04_16_12481019.mp3.

MODERN PROBLEMS OF АLPORT SYNDROME DIAGNOSIS

Introduction. In the practice of adult nephrologists there are cases of rare genetically caused kidney damage, in particular, Alport syndrome. This is due to the availability and improvement of instrumental diagnostic methods, timely approaches to treatment in pediatric practice, and prolongation of the pre-dialysis period. &#x0D; Goal. Analysis and synthesis of new data from domestic and foreign sources on the etiology, pathogenesis, clinical manifestations, types of inheritance, differential diagnosis of Alport syndrome in order to improve the success of students, interns and teachers in the study of nephrological subjects. &#x0D; Material and methods. Review of contemporary and foreign literary sources; techniques – description, analysis, abstracting. &#x0D; Results. Alport syndrome (AS, synonym: hereditary nephritis) is non-immune genetically determined glomerulopathy caused by a mutation of genes that encode collagen type IV of basement membranes, manifested by hematuria and / or proteinuria, a progressive decreased renal function, combined with pathology of hearing and abnormalities affecting the eyes. Alport syndrome inherited type: X-linked dominant (XLAS): 85%, autosomal recessive (ARAS): 15%, autosomal dominant (ADAS): 1%. &#x0D; Conclusions. Family history, electron microscopy, immunochemical analysis of type IV collagen expression are informative for verifying the diagnosis of Alport syndrome. Due to the rarity of this disease, in addition, the fact that patients often refuse kidney biopsy, it is necessary to cooperate more closely with genetic laboratories, to take measures to improve the availability of molecular analysis of mutations of collagen IV genes. In addition, it is a fact that sometimes the family history of the disease is ambiguous, unavailable for genetic analysis, and patients refuse to have a kidney biopsy. It is a motive to encourage doctors to improve their educational work with patients about safety of this analysis and its value.

Burnout and Emotional Well-Being among Nephrology Fellows: A National Online Survey.

Physician burnout and emotional distress are associated with work dissatisfaction and provision of suboptimal patient care. Little is known about burnout among nephrology fellows. Validated items on burnout, depressive symptoms, and well being were included in the American Society of Nephrology annual survey emailed to US nephrology fellows in May to June 2018. Burnout was defined as an affirmative response to two single-item questions of experiencing emotional exhaustion or depersonalization. Responses from 347 of 808 eligible first- and second-year adult nephrology fellows were examined (response rate=42.9%). Most fellows were aged 30-34 years (56.8%), male (62.0%), married or partnered (72.6%), international medical graduates (62.5%), and pursuing a clinical nephrology fellowship (87.0%). Emotional exhaustion and depersonalization were reported by 28.0% and 14.4% of the fellows, respectively, with an overall burnout prevalence of 30.0%. Most fellows indicated having strong program leadership (75.2%), positive work-life balance (69.2%), presence of social support (89.3%), and career satisfaction (73.2%); 44.7% reported a disruptive work environment and 35.4% reported depressive symptoms. Multivariable logistic regression revealed a statistically significant association between female gender (odds ratio [OR], 1.90; 95% confidence interval [95% CI], 1.09 to 3.32), poor work-life balance (OR, 3.97; 95% CI, 2.22 to 7.07), or a disruptive work environment (OR, 2.63; 95% CI, 1.48 to 4.66) and burnout. About one third of US nephrology fellows surveyed reported experiencing burnout and depressive symptoms. Further exploration of burnout-especially that reported by female physicians, as well as burnout associated with poor work-life balance or a disruptive work environment-is warranted to develop targeted efforts that may enhance the educational experience and emotional well being of nephrology fellows.

SUN-358 INDICATIONS, EFFICACY AND SAFETY OF THERAPEUTIC APHERESIS IN NEPHROLOGY PATIENTS

Therapeutic Apheresis (TA) serves as a rescue therapy in many patients with kidney diseases and these indications have expanded dramatically in the past few years. Rapid removal of undesirable antibodies and immune complexes remains the prime rationale for adopting plasmapheresis as a therapy. However, there is limited data available regarding the indications, efficacy and safety of TA in nephrology patients. This was a retrospective analysis of TA performed in adult and pediatric nephrology patients at a tertiary healthcare centre from January 2011 to December 2018. The study population included all consecutive patients admitted in the Department of Nephrology; both adult and pediatric, who were thought to benefit from TPE. All the procedures were performed on a continuous flow cell separator Com.Tec (Fresenius Kabi, Germany) with PL1 or P1R kit using central venous access. Conventional therapeutic plasma exchange was performed using PL1 kit whereas cascade plasmapheresis and immunoadsorption were performed using P1R kit. For cascade, Evaflux plasma fractionator (Kawasumi Laboratories, Japan) was used and for immunoadsorption, Glycosorb – ABO (Glycorex Transplantation AB, Sweden) or Adsopak (Pocard, Moscow) adsorbers were used. Informed consent was obtained from the patient or guardians prior to each procedure. Demographic details, clinical condition, ASFA category and clinical response were noted. Procedure parameters such as blood and plasma volume processed, anticoagulant used, time taken for the procedure, volume and type of replacement fluid administered and adverse reaction events were noted. All procedures and adverse reaction management were done according to departmental standard operating procedures. A total of 190 patients (63 females and 127 males) underwent 842 sessions of TA for different indications. 184 and 658 procedures were performed for 24 pediatric and 166 adult patients respectively. Mean age of presentation in pediatric age group was 9.21±1.22 years while in adults it was 43.08±3.41 years. 639 procedures (75.89%) were conventional plasma exchanges, 182 were cascade plasmapheresis (21.61%) and 21 were immunoadsorption (2.49%). Mean blood urea and serum creatinine prior to initiation of plasmapheresis of all indications except desensitization was 158.78±5.65mg/dl and 4.95±1.08mg/dl while at the time of termination it was 73.05±3.42mg/dl and 3.34±1.15mg/dl respectively. Replacement fluid was plasma in 303 procedures (35.98%), 5% albumin in 412 (48.93%) and combination of plasma and 5% albumin in 127 procedures (15.08%). Acid Citrate Dextrose was the preferred anticoagulant. As per departmental standard operating procedure, patients with body weight <20 kg i.e. 25 procedures (2.96%) required priming of kit with albumin or red cells. Patient outcome in terms of survival was 76.84%; 79.16% in pediatric and 74.69% in adult age group. Thirty-nine procedures (4.63%); 12 in pediatric and 27 in adults were associated with adverse events in the form of shivering(12), urticaria(3) and catheter related complications(6). Findings of this study highlight the efficacy and safety of TA in different nephrological indications for pediatric and adult nephrology patients.

Human resources for nephrology in South Africa: A mixed-methods study.

The global nephrology workforce is shrinking and, in many countries, is unable to meet healthcare needs. Accurate data pertaining to human resources in nephrology in South Africa is lacking. This data is critical for the planning and delivery of renal services and the training of nephrologists in South Africa to meet the challenge of the growing burden of chronic kidney disease. A cross-sectional study of adult and paediatric nephrologists currently delivering nephrology services in South Africa was conducted. Participants were identified using various data sources, including the register of the Health Professions Council of South Africa. This cohort of doctors was described in terms of their demographics and distribution. A survey was then conducted among these nephrologists to collect additional information on their training, scope of practice, job satisfaction, challenges and future plans. Finally, two focus group interviews were conducted to probe themes identified from the survey data. A total of 120 adult nephrologists and 22 paediatric nephrologists were identified (an overall density of 2.5 per million population). There is a male predominance (66%) and the median age is 45 years. The bulk of the workforce (128 nephrologists, 92%) is distributed in three of the nine South African provinces, and two provinces have no nephrologist at all. The survey was completed by 57% of the nephrologists. Most reported positive attitudes to their chosen profession; however, 35 nephrologists (43%) reported an excessive workload, 9 (11%) were planning emigration and 15 (19%) were planning early retirement. A higher frequency of dissatisfaction regarding remuneration (39% vs. 15%) and unsatisfactory work conditions (35% vs. 13%) was observed amongst nephrologists working in the public sector compared to the private sector. A total of 13 nephrologists participated in the focus group interviews. The themes which were identified included that of a rewarding profession, an overall shortage of nephrologists, poor career planning, a need for changes to nephrologists' training, excessive workloads with inadequate remuneration, and challenging work environments. There are insufficient numbers of nephrologists in South Africa, with a markedly uneven distribution amongst the provinces and healthcare sectors. Qualitative data indicate that South African nephrologists are faced with the challenges of a high workload, obstructive policies and unsatisfactory remuneration. In the public sector, a chronic lack of nephrologist posts and other resources are additional challenges. A substantial proportion of the workforce is contemplating emigration.

Assessing success in transitioning of young adults from pediatric to adult kidney practice

BackgroundTransfer from a pediatric to an adult medical setting is associated with many barriers. Additionally, there are little data on patients’ assessment of the transition process itself. 3 years ago at Lurie Children’s Hospital of Chicago, we established a kidney transition program with the help of an adult nephrologist, physician assistant (PA) and social worker (LCSW). After 18 months, we evaluated the patients’ perception of the program as part of a continuous quality initiative process.MethodsPatients who had transitioned from pediatric care and were seen at least once in the adult nephrology clinic were anonymized and asked to take an established 5-point Likert scale survey. Survey questions addressed readiness to transition, the transition process itself, and the perception of adult care. Surveys were followed with semi-structured interviews. 3 readers rated each response as either “negative,” “neutral,” or “positive.” Average, standard deviation and reader reliability were calculated. The readers also selected a word that best depicted each response and those most-common words were counted by question and overall.Results17 out of 42 patients (40%) completed the survey. Average age at transition (mean + SD) was 20 + 2 years; the majority of patients (82%) felt ready to transfer to adult care but only 59% felt they were consulted on the timing. 88% of patients felt having a transition appointment and meeting the adult care providers in the pediatric setting to be valuable. Although 94% of patients ultimately felt comfortable in the adult care environment, 18% experienced noticeable differences in treatment recommendations. 13 semi-structured interviews were conducted. Overall, the patients responded positively (3 + 0, 100% reader reliability) to the transition. But, when asked what could have improved the transition, the word the patients used most was, “earlier.”ConclusionYoung adults (YA) transitioning to adult care often feel ready to transition earlier than their transfer of care date. They subjectively benefit from a transition program that outlines the process of transferring their care. Many YA patients would benefit from a transition program that bolsters patient independence during early adult care visits.

Hereditary tubulopathy in the practice of adult nephrology. Case report

For a long time it was believed that hereditary tubulopathies, manifested by a wide range of peculiar disorders of ionic and acid-base homeostasis, are exclusively the prerogative of pediatricians. However, modern ideas about the pathogenesis of hereditary tubulopathies, methods of their diagnosis and treatment, have led to the fact that the meeting of an “adult” nephrologist with this pathology is not so rarely observed. On the one hand, the survival rate of patients whose hereditary tubulopathies were diagnosed in children, and even in antenatal age, has sharply increased. On the other hand, there are more and more clinical data on the possibility of manifestation of hereditary tubulopathies in young and even old age. One way or another, “adult” nephrologists more and more often began to observe patients with the hereditary tubulopathies described above. However, it should be recognized that most of us (Russian “adult” nephrologists) turned out to be unprepared for the current situation due to insufficient acquaintance with this rather rare, but very interesting pathology. It seems that the following description of clinical observation can to some extent fill this gap.