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Introduction: Kidney biopsies (KBs) are performed in patients with type 2 diabetes (T2D) to diagnose non-diabetic or hypertensive kidney disease (NDHKD) potentially requiring specific management compared to diabetic and or hypertensive nephropathy (absence of NDHKD). Indications for KB are based on the presence of atypical features compared to the typical course of diabetic nephropathy. In this study, we assessed the association of different patterns of atypical features, or KB indications, with NDHKD., Methods: Native KBs performed in patients with T2D were analyzed. Data were collected from the patients' records. KB indications were determined according to the presence of different atypical features considered sequentially: (1) presence of any feature suggesting NDHKD which is not among the following ones, (2) recent onset of nephrotic syndrome, (3) low or rapidly declining estimated glomerular filtration rate (eGFR), (4) rapid increase in proteinuria, (5) short duration of diabetes, (6) presence of hematuria, or (7) normal retinal examination., Results: Among the 463 KBs analyzed, NDHKD was diagnosed in 40% of the total population and 54, 40, 24, and 7% of the KBs performed for indications 1-4 respectively. Conversely, no patient who underwent KB for indications 5-7 displayed NDHKD. Logistic regression analyses identified eGFRCKD-EPI >15 mL/min/1.73 m2, urinary protein-to-Cr ratio <0.3 g/mmol, hematuria, HbA1c <7%, and diabetes duration <5 years as predictors of NDHKD, independently from the indication group., Conclusion: NDHKD is frequent in T2D. Despite the association of hematuria with NDHKD, our results suggest that presence of hematuria and absence of DR are insufficient to indicate KB in the absence of concurrent atypical features. Conversely, rapid progression of proteinuria and rapid deterioration of eGFR are major signals of NDHKD., (© 2021 S. Karger AG, Basel.)

The list of rare inherited disorders with renal involvement is rapidly growing. Many are single gene diseases affecting children, but cases are not restricted to pediatrics and diagnosis is often difficult and delayed. The expanding use of next-generation sequencing techniques is expected to discover new diseases, to challenge the definition of rarity, to accelerate and shake up our diagnostic paradigms, to promote 'deep phenotyping', and ultimately improve disease ontology. Rare renal diseases are exemplary of a transition from pediatric to adult-type care and pluridisciplinary approach, necessitating cooperation between geneticists, nephropediatricians, adult nephrologists, other physicians, nurses, social workers, and dietitians. They have raised new ethical issues, not only in genetic counseling, but also in public health, regarding equity, and distribution of care. Patient's organizations have grown and have been very active to promote information and research. Efforts are underway to create interoperable patient's registries and ultimately worldwide networks gathering patients, researchers, clinicians, pharmaceutical industry, and health authorities. Progress in genetics and pathophysiological mechanisms will hopefully increase the number of efficient orphan medicinal products. Finally, new frontiers set by rare nephropathies may improve the understanding, treatments, and outcomes of more frequent renal diseases.

Radiofrequency is a minimally invasive therapy allowing tumor destruction by applying physical means to the core of the lesion. There is a particular indication for the hereditary already surgically treated renal carcinomas like Von Hippel-Lindau's disease. We present a case of renal-pleural fistula developed after a percutaneous radiofrequency ablation under computed tomography (CT) guidance of a renal tumor in a VHL female patient with a renal cell carcinoma of the upper pole of the left kidney. The kidney manifestations begin at 20-year-old with the appearance of cystic lesion at the lower pole of the left kidney. At 30-year-old, a computed tomography study revealed a solid lesion arising from a cyst. The patient underwent a partial nephrectomy by flank incision. Follow-up studies discovered three solid lesions of the upper pole of the left kidney. The patient undertook a radiofrequency ablation of these lesions. Follow-up control showed a contrast enhancement of one of the three lesions treated. Under this condition another course of RF was performed, complicated by a renal-pleural fistula. A conservative management of this iatrogenic fistula was attempted combining a water restriction and the insertion of a ureteral catheter. Three weeks were necessary until the fistula completely regress., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

Objectives: To determine whether a subgroup of patients with severe but nonprogressive renal dysfunction exist and to characterize this subgroup., Design: Retrospective longitudinal monocentric cohort study., Setting: Nephrology clinic for chronic kidney disease (CKD)., Participants: Between January 1998 and December 2004, 177 consecutive patients aged 80 and older were referred for the first time to nephrology for CKD., Measurements: The characteristics of patients with nonprogressive or progressive CKD (estimated glomerular filtration rate (eGFR) decline of < and > or =1 mL/min per 1.73 m(2) per year, respectively) were observed and analyzed, and their risk of dying or requiring dialysis was determined. After exclusion of subjects requiring immediate dialysis or followed up for less than 6 months, 138 patients remained eligible for analysis., Results: In the study cohort (initial mean eGFR 31.8 mL/min per 1.73 m(2), median follow-up 47 months), patients were more likely to require dialysis than to die; 36% of patients had nonprogressive CKD. This characteristic, predicted by low proteinuria, lack of hypertension, and low cardiovascular comorbidity, was the strongest predictor of global survival. In progressors, two independent covariates (eGFR <30 mL/min per 1.73 m(2) and hemoglobin < or =11 g/dL at inclusion) predicted the risk of requiring dialysis., Conclusion: More than one-third of subjects aged 80 and older referred to a nephrology center had severe but nonprogressive kidney dysfunction. This subgroup had a lower mortality rate than those with progressive kidney dysfunction. Simple covariates (low proteinuria, lack of hypertension, low cardiovascular comorbidity) predicted nonprogression of CKD. Distant nephrology follow-up of such patients may be sufficient.

Background: Previous reports show that parathyroid hormone (PTH) concentrations may vary widely depending on the assay used to assess PTH. In this cross-sectional study, we aim to determine the usefulness of standardizing blood handling for optimal interpretation of PTH in patients with chronic kidney disease., Study Design: Diagnostic test study., Setting & Participants: Predialysis blood was sampled in 34 long-term hemodialysis patients at a single academic medical center., Index Test: PTH was measured by using 6 different automated second-generation assays (Elecsys, Advia Centaur, LIAISON, Immulite, Architect, and Access assays), 3 blood specimen types (serum, EDTA plasma, and citrate plasma), and 2 consecutive days of measurement (after thawing and 18 hours later with samples having been let at room temperature)., Reference Test: None., Results: A mixed statistical analysis model showed that the nature of the assay (P < 0.001) and nature of the blood sample (P < 0.001) significantly influenced variability in PTH concentrations, whereas day of measurement (day 1 or 2) did not (P = 0.5). Most PTH variability was caused by observations (96.8%), then manufacturer's kit (2.5%), and last, specimen type (0.7%). PTH concentrations measured in citrate plasma were lower with every assay method used than those observed in serum or EDTA plasma. The interaction between manufacturer and specimen type was of moderate statistical significance (P = 0.04). To evaluate the potential clinical consequence of PTH measure variability, we classified patients according to Kidney Disease Outcomes Quality Initiative cutoff values (PTH < 150 pg/mL; PTH, 150 to 300 pg/mL; and PTH > 300 pg/mL). Overall, statistical classification agreement was moderate to high for comparison between assays and high to very high between different blood samples and between days of measurement. However, we found that up to 11 of 34 patients were classified in different categories with some assays (LIAISON versus Architect) and up to 7 of 34 in different categories with different blood specimen type (citrate plasma versus serum [corrected] in LIAISON assay)., Limitations: This is a cross-sectional study that used single lots of reagents. There currently is no reference method for the measurement of PTH and no recombinant PTH standard for PTH assay., Conclusion: PTH variability caused by the nature of the assay and/or blood specimen type is large enough to potentially influence clinical decision making. A specified collection method therefore should be used for PTH measurements. In routine practice, we recommend serum PTH over EDTA or citrate plasma.

Renal dysfunction is a major complication in hemizygous males with Fabry disease. This often results in end-stage renal failure (ESRF), requiring dialysis or transplantation, on average 10 years after the start of renal impairment. ESRF usually occurs between 40 and 50 years of age, but may occur much earlier. Although progression of renal disease can be rapid, it is variable and may depend on whether there is residual alpha-galactosidase enzyme activity and on environmental or genetic factors. Significant renal disease is much less common in women carriers of the disease. However, renal changes do occur, which may progress to ESRF as in male patients.

The renal-coloboma syndrome (RCS, MIM 120330) is an autosomal dominant disorder caused by PAX2 gene mutations. We screened the entire coding sequence of the PAX2 gene for mutations in nine patients with RCS. We found five heterozygous PAX2 gene mutations: a dinucleotide insertion (2G) at position 619 in one sporadic RCS case, a single nucleotide insertion (619 + G) in three unrelated cases, and a single nucleotide deletion in a familial case. In this familial case, three affected sibs showed a striking ocular phenotypic variability. Each of the sibs carried a 619insG mutation, whilst unaffected parents did not, suggesting the presence of germline mosaicism. Interestingly, the 619insG mutation has been previously reported in several patients and is also responsible for the Pax21Neu mouse mutant, an animal model of human RCS. This study confirms the critical role of the PAX2 gene in human renal and ocular development. In addition, it emphasises the high variability of ocular defects associated with PAX2 mutations ranging from subtle optic disc anomalies to microphthalmia. Finally, the presence of PAX2 germline mosaicism highlights the difficulties associated with genetic counselling for PAX2 mutations.

Renal fibrosis is found in genetic kidney diseases. In some of them, fibrosis may be due to mechanisms not dependent on the gene defect. In other cases, fibrosis depends more specifically on the gene defect: e.g. in juvenile nephronophthisis where interstitial fibrosis predominates, or in Alport's syndrome where glomerulosclerosis is triggered probably by unbalanced distribution of alpha chains of type IV collagen in glomerular basement membrane. Study of genes predisposing to renal fibrosis and progression is more complex. Genes regulating the renin-angiotensin system have been considered. The DD polymorphism of the converting enzyme gene may be associated with a more rapid progression rate of renal failure in glomerular and non-glomerular diseases. This remains, however, to be confirmed in more appropriate studies.

Inherited kidney diseases are frequently encountered in adults; the diagnosis is often made and they usually progress to renal failure at this age. Autosomal dominant polycystic kidney disease is the most prevalent. It is one of the most common inherited diseases, involving 1 in 400 to 1,000 individuals. Renal cysts growth is responsible for hypertension and renal failure; polycystic kidney disease represents 6 to 7% of the causes of end-stage renal failure in adults. The disease also encompasses extra-renal localisations, i.e. liver cysts and intra-cranial aneurysms. Multiple renal cysts may be found in other inherited disorders, such as tuberons sclerosis and von Hippel-Lindau disease. Alport syndrome is the second most prevalent inherited kidney disease, characterized by various abnormalities of type IV collagen molecules. Molecular diagnosis is possible in some families, which makes genetic counselling more reliable. Finally renal involvement is frequent in a great variety of inherited metabolic (Fabry's disease, glycogen storage disease type 1, hyperuricemic nephropathy) or non-metabolic (nail-patella or Bardet-Biedl syndrome) diseases.

Aim. To understand glucose lowering therapeutic strategies of French general practitioners (GPs) in the management of type 2 diabetes mellitus (T2DM) patients with chronic kidney disease (CKD). Methods. Amulticenter cross-sectional study was conducted from March to June 2011 among a sample of French GPs who contribute to the IMS Lifelink Disease Analyzer database. Eligible patients were those with T2DM and moderate-to-severe CKD who visited their GPs at least once during the study period. Data were collected through electronic medical records and an additional questionnaire. Results. 116GPs included 297 patients: 86 with stage 3a (Group 1, GFR = 45-60 mL/min/1.73m2) and 211 with stages 3b, 4, or 5 (Group 2, GFR < 45 mL/min/1.73m2). Patients' mean age was approximately 75 years. Insulin was used in 19% of patients, and was predominant in those with severe CKD. More than two-thirds of patients were treated with glucose lowering agents which were either contraindicated or not recommended for CKD. Conclusion Physicians most commonly considered the severity of diabetes and not CKD in their therapeutic decision making, exposing patients to potential iatrogenic risks. The recent patient oriented approach and individualization of glycemic objectives according to patient profile rather than standard HbA1c would improve this situation. [ABSTRACT FROM AUTHOR]

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Objectifs Prédire en ligne la survie avec ou sans évènements cardiovasculaires à 2 ans des diabétiques de type 2 protéinuriques Méthodes Les données proviennent de l'étude multicentrique observation-nelle prospective ALICE – Protect : 153 néphrologues exerçant en France ont recruté, entre janvier 2010 et février 2011, 986 adultes diabétiques de type 2 ayant une protéinurie clinique et un DFG > 15 ml/mn/1,73 m 2 . 27 variables ayant trait aux caractéristiques du sujet, à son traitement, à ses antécédents, à ses caractéristiques biologiques ont été recueillies. Le modèle de prédiction a été réalisé à l'aide d'une méthode non paramétrique s'appuyant sur la théorie des réseaux bayésiens. L'algorithme de découverte d'association utilisé est de type naïf augmenté. Résultats La population à l'inclusion était constituée de 74 % d'hommes (70 ± 10 ans), ayant un eDFG (MDRD) de 40,0 ± 20,3 ml/min/1,73 m 2 , aux stades de Maladie Rénale Chronique 2 (13 %), 3a (18 %), 3b (32 %), et 4 (37 %). Les taux de mortalité et morbidité observés parmi la population évaluable (n = 729) durant le suivi de 23 mois ont été de 8,2 % pour les décès (60 patients, dont 26 décès de cause cardiovasculaire) et 24,1 % pour les évènements cardiovasculaires. Le modèle prédit à 83.9 % le devenir à 2 ans des diabétiques inclus dans l'étude. L'ajustement du modèle aux données est très statistiquement significatif, l'AUC sous la courbe ROC est à 0.78. La valeur prédictive négative est de 94.6 % et la valeur prédictive positive pour la survenue d'un événement CV est de 34 %. Le risque d'avoir un évènement CV à 2 ans peut être calculé en ligne à l'adresse suivante : https://www.hed.cc/?s=cvevent&t=CV%20Event Conclusion Le modèle détecte très bien (à 95 %) les sujets qui n'auront pas de complication CV dans les 2 ans. Une surveillance accrue doit être apportée aux 90 sujets qui ont 66 % de malchance de développer à 2 ans un événement CV parfois mortel (28 %). [ABSTRACT FROM AUTHOR]