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La insuficiencia renal cronica es una afeccion poco frecuente en el nino pero que sin embargo necesita un tratamiento adecuado y muy especializado. Las etiologias principales son las anomalias congenitas de los rinones y de la via urinaria, anomalias geneticas y glomerulares. Gran parte de las hipodisplasias renales pueden ser diagnosticadas durante la etapa prenatal. Otras veces el diagnostico puede ser mas tardio, cuando los sintomas no se detectan por ser casi siempre inespecificos y de desarrollo progresivo. Entre los signos de alarma cabe citar un sindrome de poliuria-polidipsia o, a la inversa, la presencia de edemas, hipertension arterial, hematuria macroscopica, astenia, anorexia o retraso de crecimiento. Los estudios biologicos y ecograficos determinaran la gravedad, la repercusion y, probablemente, la etiologia de la afeccion renal. En el nino, la funcion renal puede ser evaluada por el aclaramiento de la creatinina, que se calcula con la formula de Schwartz (36,5 × estatura [cm]/creatininemia [μmol/l]). El tratamiento consiste en tratar la causa siempre que sea posible y en medidas de nefroproteccion y tratamientos conservadores. Asimismo, cualquier factor agravante debe ser prevenido y tratado. Los tratamientos medicamentosos (suplementos vitaminicos, quelantes de potasio y de fosforo, eritropoyetina, hormona del crecimiento, etc.) se van adaptando segun la vigilancia clinica y biologica. La evolucion hacia la insuficiencia renal terminal plantea la necesidad de una depuracion extrarrenal (hemodialisis o dialisis peritoneal) o de un trasplante renal, que debe ser prioritario siempre que sea posible.

Renovascular hypertension accounts for 5-10 % of hypertensioncases in children; there is currently noconsensus on treatment. Here, we report on our clinical experience with this disease and outline the different pathways in which to investigate it. We report retrospectively on ten children diag- nosed with renovascular hypertension at the University Hos- pital of Nantes from 2001 to 2012. The main findings were obtained by fortuitous screening of children aged 2 months to 14 years old with neurofibromatosis (n=2) and fibromuscular dysplasia (n=8). The hypertension was always severe yet asymptomatic. Lesions were complicated in nine out of ten cases and included bilateral, multiple, mid-aortic syndrome and aneurysm. Doppler ultrasound associated with computed tomographyallowedfor aprecisediagnosisinsevenout often cases. Where ambiguities persisted, they were highlighted by arteriography, the gold standard investigation. Medical treatment was insufficient, leading to invasive procedures in nine out of ten children: 2 nephrectomies, 2 autotransplantations, and 21 repetitive percutaneous translu- minal angioplasties.After invasiveprocedures,blood pressure control improved in four cases and was resolved in three. Conclusion: Arteriography remains to be the gold standard technique for renovascular hypertension in children and can be combined with angioplasty when medical treat- ment is rendered obsolete. The role of computed tomog- raphy is controversial. Despite the heterogeneity of the children studied, we present a general medical and ther- apeutic management pathway for the treatment of this disease.

Objectifs La transplantation renale, traitement de choix de l’insuffisance renale chronique terminale concerne annuellement en France un peu moins d’une centaine d’enfants. Les resultats de ces transplantations pediatriques sont excellents, les receveurs, dont le poids est de moins de 15 kg, presentent, neanmoins, classiquement plus d’echecs precoces. Notre objectif est ici d’evaluer les resultats de ces transplantations en termes de morbi-mortalite et de survie du transplant. Methodes Entre mars 2006 et mars 2018, l’ensemble des transplantations pediatriques a ete realise dans notre centre par l’equipe du service d’urologie adulte. Les donnees ont ete retrospectivement analysees : caracteristiques des donneurs, des receveurs, survie globale, survie du greffon et complications postoperatoires. Cent neuf transplantations renales ont ete realisees chez 100 patients (9 enfants en eu deux transplantations). L’âge moyen des receveurs a ete de 9,5 ans. Les causes d’insuffisance renale ont ete nephrologiques (55 %), urologiques (30 %) et indeterminee (15 %). Les donneurs avaient un âge moyen de 18,9 ans et un poids moyen de 52 kg. Au total, 12,8 % (14/109) des transplantations ont ete faites avec un donneur vivant. Resultats Le taux de survie des greffons a ete de 96 % a 1 an, 92 % a 5 ans et 71 % a 10 ans. Le taux de complications chirurgicales a ete 16 % (18/109). Le taux d’echec precoce a ete de 3 %, dont 2 thromboses veineuses, une thrombose arterielle et une d’etiologie indeterminee. Il y a eu 10 pertes tardives (rejet) Chez les 28 receveurs de moins de 15 kg, tous transplantes en position haute, le taux de complications chirurgicales a ete de 17 % (4/28) : 2 fistule et 2 reflux. Il n’y eu aucune thrombose veineuse ni arterielle precoce. Le taux de survie des greffons a ete de 96 % a 1 an, 90 % a 5 ans et 86 % a 10 ans. Il y a 5 pertes tardives de transplants (rejets ou recidive de la pathologie initiale) Conclusion La transplantation renale pediatrique realisee par une equipe d’urologie adulte offre d’excellents resultats y compris chez les receveurs de moins de 15 kg.

Summary Sexuality is frequently affected in diabetic patients. While one man in five suffers from erectile dysfunction (ED) in the general population, ED is 4.5 times more frequently observed in diabetic patients and starts 10 to 15 years earlier than in non-diabetics. ED in diabetic patients has significant semeiological value: it shows a significant change in the diabetes and its impact on the organs. It appears today to be the most reliable indicator of micro-angiopathic complications of diabetes and an important marker of possible silent ischemia. From the outset, ED is usually associated with major relationship and emotional problems. In diabetic patients, the consequences are even more serious and responsible for a significant deterioration in all aspects of quality of life, responsible for lower tolerability to the constraints of diabetes that will sometimes have an impact on therapeutic compliance and metabolic balance. General practitioners still experience many barriers and difficulties in consistently screening ED in diabetic patients and treating it. Nevertheless, it is possible to achieve and we should improve our clinical practices to better integrate screening and treatment of sexual pathologies in our patients, especially diabetics, to go beyond their demands and propose efficacious therapeutic solutions adapted to their needs.

International audience; In the folate cycle MTHFD1, encoded by MTHFD1, is a trifunctional enzyme containing 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase activity. To date, only one patient with MTHFD1 deficiency, presenting with hyperhomocysteinemia, megaloblastic anaemia, hemolytic uremic syndrome (HUS) and severe combined immunodeficiency, has been identified (Watkins et al J Med Genet 48:590-2, 2011). We now describe four additional patients from two different families. The second patient presented with hyperhomocysteinemia, megaloblastic anaemia, HUS, microangiopathy and retinopathy; all except the retinopathy resolved after treatment with hydroxocobalamin, betaine and folinic acid. The third patient developed megaloblastic anaemia, infection, autoimmune disease and moderate liver fibrosis but not hyperhomocysteinemia, and was successfully treated with a regime that included and was eventually reduced to folic acid. The other two, elder siblings of the third patient, died at 9 weeks of age with megaloblastic anaemia, infection and severe acidosis and had MTFHD1 deficiency diagnosed retrospectively. We identified a missense mutation (c.806C > T, p.Thr296Ile) and a splice site mutation (c.1674G > A) leading to exon skipping in the second patient, while the other three harboured a missense mutation (c.146C > T, p.Ser49Phe) and a premature stop mutation (c.673G > T, p.Glu225*), all of which were novel. Patient fibroblast studies revealed severely reduced methionine formation from [(14)C]-formate, which did not increase in cobalamin supplemented culture medium but was responsive to folic and folinic acid. These additional cases increase the clinical spectrum of this intriguing defect, provide in vitro evidence of disturbed methionine synthesis and substantiate the effectiveness of folic or folinic acid treatment.