Les néphronophtises/ciliopathies sont rarement considérées comme une cause d’IRC chez l’adulte, encore moins lorsqu’une hypertension sévère est présente et ce, surtout à un stade précoce de la maladie rénale. L’hypertension artérielle maligne ne fait pas partie de la description classique des ciliopathies, du fait de la perte de sel. Nous rapportons ici 7 patients non apparentés se présentant avec un tableau initial d’hypertension maligne, avec pour certains histopathologiquement des lésions glomérulaires de microangiopathie thrombotique. Pour l’ensemble de ces cas, la recherche d’hypertension artérielle secondaire et les études fonctionnelles de la voie alterne du complément, n’ont pas permis de retrouver une étiologie. Depuis septembre 2018, nous proposons un séquençage complet de l’exome aux patients de moins de 45 ans ayant une néphropathie indéterminée et/ou des antécédents familiaux de néphropathie. Chez ces patients, l’étude génétique par séquençage complet de l’exome a permis de faire le diagnostic inattendu de néphronophtise type 12 et 13 (gènes TTC21B et WDR19 respectivement). Cette analyse nous a également permis d’exclure des causes confondantes, et notamment des anomalies des gènes du complément. Ces cas ajoutent un phénotype essentiellement vasculaire à ces deux types de néphronophtise, non décrit jusqu’alors, que nous regroupons ici sous le terme « néphroangionophtise ». Notre étude suggère aussi que le diagnostic des néphropathies vasculaires, principalement chez l’adulte n’est pas univoque. Elle démontre l’intérêt du séquençage complet de l’exome en néphrologie chez l’adulte, comme permettant de rectifier des diagnostics, mais également d’enrichir la connaissance sur les maladies génétiques de l’adulte.

La toxicité rénale secondaire aux traitements antirétroviraux est fréquente, notamment par cristallurie. En revanche, la précipitation systémique de ces thérapeutiques entraînant une menace vitale est rarement décrite. Nous rapportons le cas d’une défaillance multi-viscérale secondaire à une toxicité du traitement antiviral Foscavir® chez une patiente transplantée rénale. Ce traitement a été entrepris 8 mois après la transplantation pour une réactivation à cytomégalovirus. La patiente a, dans les suites, présenté un syndrome de défaillance multi-viscérale d’étiologie inexpliquée. La précipitation de cristaux de foscarnet a été prouvée histologiquement sur biopsie du greffon rénal en microscopie optique et infrarouge. Outre l’atteinte rénale par précipitation de cristaux de foscarnet dans les lumières tubulaires et au sein des capillaires glomérulaires, la patiente présentait une pancréatite, une pancolite et une myocardite avec un état de choc. L’interruption du traitement a permis une amélioration rapide de l’état général mais n’a pas évité la perte définitive du greffon. Devant une défaillance multi-viscérale inexpliquée chez un patient traité par Foscavir®, il faut émettre l’hypothèse d’une toxicité de cette thérapeutique via la précipitation systémique de cristaux. La ponction biopsie rénale ou du greffon rénal semble l’examen privilégié pour poser le diagnostic.

Objective. - To review clinical and radiological aspects of an unusual lesion, mammary fibromatosis.Patients and methods. - We conducted a retrospective study of all cases diagnosed between 1993 and 2010, and reviewed all the clinical, radiological and pathological aspects of the lesions.Results. - Eleven cases, including nine women (one with bilateral fibromatosis) and one man, were identified. Patients were aged 21 to 78 and all presented with a palpable breast mass. In 50% of cases mammography detected the lesion, either as a spiculated mass (75%) or as a focal asymmetric density (25%). The lesion was always visible with sonography, and was usually (80%) suspicious. The lesion showed significant enhancement on CT or MRI in 83% of cases. The medium radiological size was 26 mm. Sonographically guided 14-gauge core needle biopsy suggested the diagnosis in all cases (5/5) and was able to assert it in three cases before excision. One recurrence was observed during the follow-up, which was of 3 to 8 years (medium follow-up 28 months).Conclusion. - Mammary fibromatosis often has a suspicious clinical and radiological appearance. Core biopsy is mandatory because it helps guiding the diagnosis before surgical excision. (C) 2012 Elsevier Masson SAS. All rights reserved.

Thoracic imaging is the most common CT scan in clinical practice. The purpose of this teaching article is to better understand lung anatomy using a wide range of images with appropriate explanations. The goal is to enable precise localization and surveillance of pulmonary lesions.

Two patients with rheumatoid arthritis (RA) developed necrotizing crescentic glomerulonephritis with high titers of anti-myeloperoxidase antibodies (MPO) in the absence of overt extrarenal vasculitis. We therefore suggest that in some patients with RA, MPO-ANCA necrotizing glomerulonephritis (GN) may occur as a kidney-limited form of rheumatoid vasculitis, and that RA should be added to the list of diseases potentially associated with necrotizing GN with anti-MPO antibodies. These observations also point out the importance of repeatedly evaluating titers of anti-MPO antibodies in the course of RA, especially if renal impairment or abnormal urinary sediment are present. (Am J Kidney Dis 1998 Nov;32(5):E6)

Peritoneal dialysis was the first method used to assist failing kidneys. The consensus in the 1960s was that peritoneal dialysis was of limited usefulness as compared to chronic hemodialysis for the treatment of end-stage renal failure. In the late 1970s, however, peritoneal dialysis emerged as a valuable means of achieving continuous steady-state dialysis. Numerous technical advances have allowed to improve results, and peritoneal dialysis is now a valid alternative to hemodialysis. The two techniques are complementary. However, peritoneal dialysis is a medium-term solution, and hemodialysis remains the only possibility for long-term treatments. Peritoneal dialysis is especially valuable in patients who prefer to be treated at home, in particular while waiting for a kidney transplant.

The particularity of geriatric medicine and the lack of information due to the fact that geriatric nephrology dates back only 10 years explains why the management of chronic uraemia among the elderly presents itself as a succession of difficult dilemmas. (1) Should causes of chronic renal failure be systematically determined and treated? Risk-benefit assessments of the investigations and treatments involved in preventing or slowing down the evolution to end-stage renal disease (ESRD) are required to answer this question. (2) In cases of ESRD, should dialysis always be considered? The fact that life expectancy is limited for the aged does not justify depriving them of treatment. Nevertheless, in some borderline situations, conservative treatment may be preferable. (3) When should dialysis be started? Currently the mortality before the 90th day of dialysis is very high among elderly patients. To improve results it is probably necessary to determine appropriate criteria for starting treatment before complications occur. (4) What is the best method for the first treatment? There is much controversy about the respective advantages of haemodialysis and peritoneal dialysis. The choice depends on the individual's medical and social conditions. (5) Should dialysis treatment be stopped, and, if so, in this case, when? The large acceptance rate of elderly patients for dialysis implies that withdrawal of treatment must sometimes be considered. Fears linked to this dilemma probably explain why some physicians choose to exclude elderly patients from dialysis. It seems to us more ethical to treat this group of patients and assume responsibility for stopping treatment should it be necessary.

We report a case of autoimmune haemolysis after an ABO- and ABDR-identical kidney transplantation which leads to the discussion of the role of cyclosporin A (CsA). A 46-year-old woman with end-stage renal disease and no history of auto-immune disease received an ABO- and ABDR-identical first renal allograft from a cadaver donor. On day 16, while on a heavy sequential immunosuppressive regimen including anti-thymoglobulins, azathioprine (Aza), prednisolone (Pred) and CsA, she developed an autoimmune haemolysis with positive Coombs test, IgM+C type. Elution of antierythrocyte antibodies did not enable us to identify any specificity. Haemolysis lasted 45 days before haemoglobin slowly increased after CsA had been greatly reduced. Direct antiglobulin tests remained positive 5 months after transplantation and became negative the following month. Eight months after the transplantation the patient had a normal haemoglobin level and normal renal function. Although the typing of autoantibodies was not possible, our data suggest that this patient's haemolysis may be related to the clonal development of donor B lymphocytes in the recipient, favoured by an HLA A-B-DR identity and post-transplant CsA therapy, as exceptionally reported in the literature.