PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.

BACKGROUND: PKD2-related autosomal dominant polycystic kidney disease (ADPKD) is widely acknowledged to be of milder severity than PKD1-related disease, but population-based studies depicting the exact burden of the disease are lacking. We aimed to revisit PKD2 prevalence, clinical presentation, mutation spectrum, and prognosis through the Genkyst cohort. STUDY DESIGN: Case series, January 2010 to March 2016. SETTINGS & PARTICIPANTS: Genkyst study participants are individuals older than 18 years from 22 nephrology centers from western France with a diagnosis of ADPKD based on Pei criteria or at least 10 bilateral kidney cysts in the absence of a familial history. Publicly available whole-exome sequencing data from the ExAC database were used to provide an estimate of the genetic prevalence of the disease. OUTCOMES: Molecular analysis of PKD1 and PKD2 genes. Renal survival, age- and sex-adjusted estimated glomerular filtration rate. RESULTS: The Genkyst cohort included 293 patients with PKD2 mutations (203 pedigrees). PKD2 patients with a nephrology follow-up corresponded to 0.63 (95% CI, 0.54-0.72)/10,000 in Brittany, while PKD2 genetic prevalence was calculated at 1.64 (95% CI, 1.10-3.51)/10,000 inhabitants in the European population. Median age at diagnosis was 42 years. Flank pain was reported in 38.9%; macroscopic hematuria, in 31.1%; and cyst infections, in 15.3% of patients. At age 60 years, the cumulative probability of end-stage renal disease (ESRD) was 9.8% (95% CI, 5.2%-14.4%), whereas the probability of hypertension was 75.2% (95% CI, 68.5%-81.9%). Although there was no sex influence on renal survival, men had lower kidney function than women. Nontruncating mutations (n=36) were associated with higher age-adjusted estimated glomerular filtration rates. Among the 18 patients with more severe outcomes (ESRD before age 60), 44% had associated conditions or nephropathies likely to account for the early progression to ESRD. LIMITATIONS: Younger patients and patients presenting with milder forms of PKD2-related disease may not be diagnosed or referred to nephrology centers. CONCLUSIONS: Patients with PKD2-related ADPKD typically present with mild disease. In case of accelerated degradation of kidney function, a concomitant nephropathy should be ruled out.

[Teledialysis in satellite hospital: 5-year practice in Saint-Brieuc]. / Hémodialyse en unité de dialyse médicalisée télésurveillée: une expérience de cinq années.

The ageing population, the need for patient care delivery closer to home and reducing travel cost and isolation and, not at least, optimising medical team activity lead to adapt treatment by hemodialysis. Telehealth is an alternative now enabled by recent regulatory changes. We summarize here the regulatory and organisational conditions in a monitored Medicalized Dialysis Unit (MDU) and report the local experience of Saint-Brieuc Hospital; the feasibility and functionality over time (5 years) of this approach was demonstrated in clinical practice with selected patients; over short-term and for a still-limited number of patients, its clinical results are comparable to those observed in a MDU running on a traditional regimen (weekly visits and on-call 24 hours on-site 24 of the nephrologist); the degree of patient satisfaction, some of them very old people, is high. Stability of communications mainly depending of the operators and audio-video quality needed for a friendly and efficient exchange, could be improved. Relevant analysis of cost is necessary to adjust compensation and to encourage the deployment of teledialysis. The development of this technique is suitable in order to maintain oldering populations close to home, to assure the fairest access to medical care and to serve its purpose, which is the care in all its dimensions.

[Retrospective clinical epidemiology research on a sample of 277 patients with viral hepatitis A, 20-70 aged, from the Suceava County, between 2001-2008]. / Cercetari clinico-epidemiologice, retroprospective, pe un lot de 277 bolnavi cu hepatita virala A, in vârsta de 20-70 ani, din judetul Suceava, in perioada 2001-2008.

UNLABELLED: Authors present some results of clinical epidemiological research carried out on a sample of 277 patients with viral hepatitis A (VHA), hospitalized in Suceava County, during 8 years. MATERIAL AND METHOD: An annual evolution of VHA incidence correlated with the epidemiological territorial situation was highlighted. RESULTS: Incidence of VHA in 20-40 age group represented 70.8%, and 33.5% in 20-25 age group. Diagnosis index was unfavourable with influence for interval of hospitalization over 21 days in 9.7% of cases. The VHA characteristic medium clinical form was kept in 80.1% of total patients. ASAT and ALAT levels were correlated with the clinical forms, age structure and early diagnosis difficulties.

Epidemiologic data of primary glomerular diseases in western France.

Between January 1, 1976, and December 31, 2002, histologic diagnosis of primary glomerular diseases (PGD) was made in 898 patients born and living at the time of diagnosis in a region of France, comprising 412,735 inhabitants, of whom 391,265 were aged from 10 to 85 years. The prevalence of PGD during a 75-year exposure to risk (10 to 85 years of age) was evaluated to 6.9 in 1000 (8.2 in 1000 males and 5.1 in 1000 females) during the 27-year period. The most common PGD was IgA nephropathy (IgAN) with a prevalence of 2.4 in 1000 (3.6 in 1000 males and 1.3 in 1000 females). The annual incidence of PGD was evaluated separately for two consecutive 10-years periods: period A (1976 to 1985), period B (1986 to 1995) and for one 7-year period: period C (1996 to 2002). Within each of these three periods, annual incidence of PGD was 89, 76, and 65 per million inhabitants. During this 27-year period, the annual incidences of membranoproliferative glomerulonephritis (GN) and membranous nephropathy were declining and the incidence of crescentic proliferative GN was strongly progressing, whereas annual incidence of nephrosis remained stable. The incidence of IgAN remained the same throughout the three periods: 28, 28, and 26 per million inhabitants. Whereas the incidence of IgAN was three- to fourfold higher in the adult aged from 20 to 59 years than in the elderly during the periods A (38 vs. 11 per million inhabitants) and B (37 vs. 12 per million inhabitants), the incidence became similar whatever age groups during the last period C (20 to 59 years, 25 per million inhabitants; 60 to 79 years, 27 per million inhabitants; and 80 years and over, 28 per million inhabitants. The stability of annual incidence according to period and age, which is demonstrated for the first time during the last period, provides a new evidence of a role for genetic factors in the pathogenesis of IgAN.