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A diagnosis of nephrotic syndrome (NS) in children with edema relies on urinary albumin excretion and usually plasma protein (Pprot) and albumin (Palb) concentrations.In order to fit laboratory tests to optimal healthcare in low-resource countries, we established correlations between Pprot and Palb in children with NS (217 measurements in 60 patients) and in children with exudative enteropathy and chronic hepatopathy/liver insufficiency (186 measurements in 21 patients); all patients had repeated measurements at various stages of their disease.There was a good correlation between Pprot and Palb in children with idiopathic NS and genetic NS (ICC=0.8, p 0.0001, 95% CI: 0.8-0.9 and ICC=0.8, p 0.0001, 95% CI: 0.7-0.8, respectively), whereas the correlation was average (exudative enteropathy) or absent (chronic hepatopathy) in those without renal protein loss.Since Palb measurement is around two times more expensive than Pprot measurement, these results suggest giving priority to total Pprot measurement in the diagnosis and follow-up of children with the NS, mainly in low-resource countries.

Riassunto I disturbi minzionali costituiscono il sintomo urinario piu frequente nei bambini e devono essere sottoposti a uno screening di routine durante una visita pediatrica. Nella pratica quotidiana, l’insorgenza di un’infezione del tratto urinario nel contesto di disturbi minzionali e molto frequente e deve sempre essere ricercata in un bambino con cistite o pielonefrite, soprattutto se le infezioni si ripresentano. Un’anamnesi meticolosa e un esame obiettivo mirato (palpazione addominale, esame neurologico e ortopedico degli arti inferiori e della colonna vertebrale) permettono, il piu delle volte, di orientare la diagnosi e di risolvere i tre quarti dei casi di disturbi da svuotamento da parte di un medico di prima linea. Un’ecografia renale e del tratto urinario (vescica piena, con ricerca di un residuo postminzionale) e uno stick urinario sono utili nella maggior parte dei casi, mentre gli altri esami complementari devono essere discussi caso per caso. Le conseguenze dei disturbi minzionali possono essere molteplici (infezione del tratto urinario, reflusso vescicoureterale, aumento della pressione vescicale, uropatie secondarie, difficolta nell’apprendimento minzionale e impatto psicologico e sulla qualita della vita) e devono essere rilevate e prese in considerazione, tanto piu se esiste una situazione a rischio renale (in particolare una vescica iperattiva con elevata resistenza). La gestione dei disturbi minzionali nei bambini associa in primo luogo delle regole “semplici”, cosi come una gestione della ritenzione fecale spesso associata. Se queste misure falliscono, possono essere proposti dei trattamenti farmacologici e una rieducazione vescicosfinterica.

Klinefelter Syndrome (KS) patients, defined by a 47 XXY karyotype, have increased risk of fragility fractures. We have assessed bone microarchitecture by high resolution peripheral quantitative CT (HR-pQCT) at the radius and tibia in young KS patients, naïve from testosterone replacement therapy (TRT). Areal bone mineral density (BMD) and body composition were assessed by dual X-ray absorptiometry (DXA). Total testosterone (tT) was measured at baseline. Bone measurements have been repeated after 30 months of TRT. We enrolled 24 KS patients and 72 age-matched controls. KS patients were (mean ± SD) 23.7 ± 7.8 year-old. KS patients had significantly lower relative appendicular lean mass index (RALM) and lower aBMD at spine and hip than controls. Ten patients (42%) had low tT level (≤ 10.4 nmol/L). At baseline, we observed at radius a marked cortical (Ct) impairment reflected by lower Ct.area, Ct.perimeter, and Ct.vBMD than controls. At tibia, in addition to cortical fragility, we also found significant alterations of trabecular (Tb) compartment with lower trabecular bone volume (BV/TV) and Tb.vBMD as compared to controls. After 30 months of TRT, 18 (75%) KS patients were reassessed. Spine aBMD and RALM significantly increased. At radius, both cortical (Ct.Pm, Ct.Ar, Ct.vBMD, Ct.Th) and trabecular (Tb.vBMD) parameters significantly improved. At tibia, the improvement was found only in the cortical compartment. Young TRT naïve KS patients have inadequate bone microarchitecture at both the radius and tibia, which can improve on TRT.

Congenital mesoblastic nephroma is a rare pediatric renal tumor and has been reported in patients presenting with palpable abdominal mass, arterial hypertension, hematuria, polyuria, or hypercalcemia. Here we present the case of a 1-month-old neonate with suspected parathyroid hormone (PTH)-related peptide (PTH-rp)-mediated severe hypercalcemia revealing congenital mesoblastic nephroma. Preoperatively, hypercalcemia was corrected with hydration, furosemide, pamidronate, and low-calcium infant formula. Unilateral nephrectomy led to the resolution of hypercalcemia, transient hyperparathyroidism, and transient vitamin D and mineral supplementation. We conclude that congenital mesoblastic nephroma can secrete PTH-rp that can cause severe hypercalcemia.

Adolescence is a crucial period for bone growth, and many factors during this period can influence bone quality and the intensity of peak bone mass, e.g., nutritional intakes and physical activity ...

Resume L’elimination des medicaments est essentiellement renale et hepatique, et 75 % des medicaments sont principalement elimines par les reins. La nephrotoxicite en pediatrie concerne surtout les medicaments, mais il est important de connaitre d’autres types de nephrotoxicite non medicamenteux, par ingestion accidentelle ou volontaire, ou par contact, avec des produits chimiques, des toxines environnementales, des drogues, des vegetaux ou des animaux. La nephrotoxicite peut etre aigue ou chronique, dose-dependante ou -independante, et peut atteindre tous les compartiments fonctionnels du rein, meme si la necrose tubulaire aigue est le mecanisme le plus frequemment observe. Chez l’enfant, les informations sont souvent extrapolees des observations faites chez l’adulte et parfois a partir de l’experimentation animale ; il importe donc de preciser les particularites de la nephrotoxicite en pediatrie, qui subissent des variations considerables entre la periode fœtale et l’adolescence. Nous proposons donc une mise au point sur la nephrotoxicite en pediatrie, avec des rappels de physiopathologie, le rappel des grandes situations de nephrotoxicite medicamenteuse, et enfin un expose des situations les plus frequentes de nephrotoxicite non medicamenteuse.

Single-cell RNA sequencing provides new insights into pathologic epithelial and mesenchymal remodeling in the human lung., Pulmonary fibrosis (PF) is a form of chronic lung disease characterized by pathologic epithelial remodeling and accumulation of extracellular matrix (ECM). To comprehensively define the cell types, mechanisms, and mediators driving fibrotic remodeling in lungs with PF, we performed single-cell RNA sequencing of single-cell suspensions from 10 nonfibrotic control and 20 PF lungs. Analysis of 114,396 cells identified 31 distinct cell subsets/states. We report that a remarkable shift in epithelial cell phenotypes occurs in the peripheral lung in PF and identify several previously unrecognized epithelial cell phenotypes, including a KRT5−/KRT17+ pathologic, ECM-producing epithelial cell population that was highly enriched in PF lungs. Multiple fibroblast subtypes were observed to contribute to ECM expansion in a spatially discrete manner. Together, these data provide high-resolution insights into the complexity and plasticity of the distal lung epithelium in human disease and indicate a diversity of epithelial and mesenchymal cells contribute to pathologic lung fibrosis.

Los trastornos miccionales constituyen el sintoma urinario mas frecuente en el nino y deberian detectarse de manera sistematica en la consulta pediatrica. En la practica diaria, es muy frecuente que aparezca una infeccion urinaria en un contexto de trastornos miccionales, por lo que estos deben buscarse siempre en un nino que presente una cistitis o una pielonefritis, a fortiori cuando son infecciones de repeticion. Casi siempre, con una anamnesis minuciosa y una exploracion fisica dirigida (palpacion abdominal, exploracion neurologica y ortopedica de los miembros inferiores y de la columna vertebral), el medico de atencion primaria suele poder establecer el diagnostico y resolver un 75% de los casos de trastornos miccionales. Tambien suelen resultar utiles las tiras reactivas de orina y la ecografia renal y de vias urinarias (vejiga llena, busqueda de un residuo posmiccional), pero las otras pruebas complementarias se deben discutir caso por caso. Las consecuencias de los trastornos miccionales pueden ser multiples (infeccion de orina, reflujo vesicoureteral, aumento de las presiones vesicales, uropatias secundarias, dificultades en el aprendizaje del control de la miccion asi como repercusion psicologica y en la calidad de vida), por lo que deben detectarse y, en su caso, tratarse, porque ademas conllevan una situacion de riesgo renal (en particular de vejiga hiperactiva con resistencias elevadas). Para tratar los trastornos miccionales de la infancia, se aplican de entrada una serie de normas «simples» acompanadas de un tratamiento de la retencion fecal que a menudo esta asociada. Cuando estas medidas fracasan, se pueden proponer tratamientos farmacologicos asociados a una rehabilitacion vesicoesfinteriana.

Introduction Some metabolic bone disorders may result in the premature closure of one or more calvarial sutures during childhood, potentially leading to a cranioencephalic disproportion. The aim of this paper is to review the characteristics and consequences of craniosynostosis associated with metabolic disorder. Material and methods A review of the literature on metabolic forms of craniosynostosis was performed. Results The most common forms of craniosynostosis associated with metabolic bone disorder were isolated sagittal suture fusion with or without scaphocephaly, and sagittal suture fusion associated with coronal suture fusion (oxycephaly) or also with lambdoid suture fusion (pansynostosis). Synostosis may be well-tolerated, but in some subjects results in neurodevelopmental and functional impairment that is sometimes severe. Conclusion The impact of metabolic synostosis is very variable, depending on the specific underlying metabolic disease, with a large spectrum of morphological and functional consequences. Diagnosis should be early and management should be carried out by a multidisciplinary team with expertise in both rare skeletal disorders and craniosynostosis. The impact of emergent medical therapies recently developed for some of these diseases will be assessed by systematic coherent follow-up of international registries.

Renal impairment in hypophosphatasia (HPP) has been described but remains poorly understood: hypercalciuria, nephrocalcinosis and sometimes even chronic kidney failure secondary to chronic hypercalcemia/hypercalciuria or exposure to toxic agents. The objectives of this review are to describe the different renal lesions observed in HPP, and the therapeutic measures that can be applied (in particular, thiazide diuretics).

International audience; Pediatric R-Tx patients are at high risk of developing EBV primary infection. Although high DNA replication is a risk factor for PTLD, some patients develop PTLD with low viral load. In this retrospective single-center study including all pediatric patients having received R-Tx (2003-2012 period), we aimed to identify risk factors for uncontrolled reactions to EBV (defined as the presence of a viral load \textgreater10~000~copies/mL or PTLD). A Cox proportional hazard model was performed. A total of 117 patients underwent R-Tx at a mean age of 9.7~\textpm~5.3~years, 46 of them being seronegative for EBV at the time of R-Tx. During follow-up, 54 patients displayed positive EBV viral load, 22 of whom presenting with primary infection. An uncontrolled reaction to EBV was observed in 24 patients, whilst 4 patients developed PTLD. Univariate and multivariate analyses suggested the following risk factors for an uncontrolled reaction: age below 5~years, graft from a deceased donor, >=5 HLA mismatches, EBV-seronegative status at the time of R-Tx, and a secondary post-Tx loss of anti-EBNA. Monitoring anti-EBNA after R-Tx may contribute to the early identification of patients at risk for uncontrolled reaction.

Resume Le role « historique » de la vitamine D est son role dans l’homeostasie phosphocalcique ; au-dela du metabolisme osseux, la vitamine D a aussi un effet benefique sur la sante globale, avec la description d’un role anti-infectieux, anti-inflammatoire, anti-tumoral et protecteur cardiovasculaire. Meme si la realite de ces effets globaux n’est pas encore prouvee de maniere indiscutable, de plus en plus d’etudes epidemiologiques ont montre la tres grande frequence du deficit en vitamine D dans la population generale, et la vitamine D reste un sujet d’actualite a la fois pour les scientifiques, les medecins et le grand public. Dans ce contexte, les modeles animaux ont permis de progresser sur la comprehension a la fois de la physiologie et de la pathologie, et l’objectif de cette revue est de faire le point sur ces lecons obtenues des animaux genetiquement modifies, avant de faire le lien avec les pathologies genetiques en lien avec ces modeles animaux, et notamment les rachitismes par mutation de la 1-alpha-hydroxylase et du VDR.

Hepatitis E is an emerging disease in developed countries and is usually asymptomatic, particularly in children. Chronic infection is possible in immunocompromised individuals. In the context of a liver transplant, it can simulate a rejection. In this case, antiviral therapy may be considered, thus highlighting the need to diagnose hepatitis E virus (HEV) infection in this population.Given the lack of data in France, we have studied the the prevalence of antibodies to HEV in the paediatric liver transplant population.This was a retrospective study, carried out in Lyon between 1st January 2010 and 31 May 2013. HEV serology (anti-HEV IgMIgG) and HEV PCR were studied in 96 children who had undergone liver transplants (84 isolated liver and 12 combined liver and kidney transplants).Eight patients (8.3%; 62.5% girls; mean age:12.3 years) were HEV seropositive. The mean period since their transplantation was 10 years (range:2-21.8 years). Biliary atresia was the principal indication for transplantation. Seven of these eight children had received liver transplants. There were no differences between the epidemiological and clinical data concerning these patients and the remainder of the study population, particularly with respect to immunosuppression(7/8 tacrolimus; 50% dual immunosuppression). No cases of chronic hepatitis E were found, but 1/8 had chronic cytolysis(EBVadenovirus infection). In all the patients tested(4/8), seroconversion had occurred after the transplant. There was no significant differences between the age groups in this study.This study showed that in France, the prevalence of antibodies to HEV in paediatric liver and combined liver and kidney transplant patients is 8.3%, as has been found by other European authors.

Background Management of children with congenital nephrotic syndrome (CNS) is challenging. Early bilateral nephrectomies followed by dialysis and transplantation is currently practised in most centres, but conservative treatment may also be effective. Methods We conducted a 6 year survey across members of the European Society for Paediatric Nephrology Dialysis Working Group to compare management strategies and their outcomes in children with CNS. Results 81 children (51% male) across 17 tertiary nephrology units in Europe were included (NPHS1 n=57; NPHS n=2, WT1 n=10, others n=12; details of mutations not examined). Antiproteinuric treatment was given in 48 (59%) with an increase in S-albumin in 68% by median 6 (interquartile range 3–8) g/L (p Children with NPHS1 mutations and >12 months follow-up were divided into two groups and their outcomes were compared: bilateral nephrectomy (n=26) versus conservative management (no nephrectomy; n=17). Nephrectomised children presented earlier (3 vs 29 days; p=0.01), with comparable S-albumin (p=0.21) and S-creatinine (p=0.19). There was no difference in the number of septic or thrombotic episodes and growth was comparable. At final follow-up (median age 34 months) 9 (53%) children in the conservative group remained without renal replacement therapy, 4 (24%) received a renal transplant and 2 died. Amongst nephrectomised children 21 (81%; p Conclusion An individualised, stepwise approach, with prolonged conservative management, followed by unilateral nephrectomy may be a reasonable alternative to early bilateral nephrectomies in children with CNS secondary to NPHS1 mutations.

GACI (generalized arterial calcification of infancy) is a rare autosomal recessive disorder characterized by arterial and periarticular calcifications. Most children die in the first months of life of cardiovascular complications. Hypophosphatemic rickets (HR) resistant to medical treatment may complete the phenotype and is associated with a milder phenotype. This report discusses the case of a girl who presented neonatal ectopic periarticular calcifications with spontaneous regression, and then at the age of 3 years developed HR. There was no clinical improvement after treatment with calcitriol and phosphate, and correction of alkaline phosphatase induced the recurrence of periarticular and tissular calcifications : the treatment was reduced and the bone distortion treated by surgery. GACI diagnosis was confirmed by genetic analysis. At the age of 4.5 years, she developed a retinal abnormality and decreased radial pulse: these clinical signs are usually observed in pseudoxanthoma elasticum (PXE). It is now established that GACI and PXE belong to the same entity characterized by arterial and tissular calcifications of which this original case report is an illustration.

Objectifs L’hypercalciurie est une cause frequente de calculs renaux. Des mutations perte de fonction biallelique de cyp24a1, gene codant pour la vitamine d 24-hydroxylase, et identifiees dans des formes d’hypercalcemie idiopathie neonatale, ont ete egalement identifiees chez des patients avec lithiase renale et/ou nephrocalcinose. Decouverte d’hypercalciurie chez des patients lithiasiques avec mutation heterozygote de la cyp24a1, theoriquement non symptomatiques. Methodes Trois patients, (âge 32 ± 8 ans), ont consulte pour maladie lithiasique active. Les calculs etaient constitues de weddellite ou de brushite. Le bilan phosphocalcique montrait : calcemie normale a 2,34 ± 0,06 mmol/L, pth a 41 ± 13 ng/L (normes 15–65) ; 25-oh vit d a 76 ± 7 nmol/L et 1,25-(oh)2 vit d a 225 ± 98 pmol/L. La calciurie moyenne etait de 5,33 mmol/24 h, soit 0,09 ± 0,01 mmol/kg/j. La consommation sodee et proteique etait normale. Une charge calcique a ete realisee devant l’activite lithiasique importante et/ou l’hypercalciurie avec une absence d’hypercalciurie resorptive et une hypercalciurie absorptive (delta ca/creat a 0,73 n Resultats L’association d’une 1,25-(oh)2 vit d elevee, d’une hypercalcemie a h2 et h4 de la charge calcique avec une pth freinee a motive la recherche de mutation de la 24-hydroxylase. Il a ete identifie une mutation a l’etat heterozygote chez ces 3 patients (c.1124c > t/p.(pro375leu), c1226t > c/p.(leu409ser) et c.1348t > a/p.(phe450ile). Il serait interessant de doser la 24-25ohd2 chez ces patients ( Tableau 1 ). Conclusion Les mutations heterozygotes de cyp24a1 peuvent etre identifiees chez des patients lithiasiques hypercalciuriques avec une 1,25-(oh)2 vit d elevee. Une charge calcique avec hypercalciurie absorptive et freination majeure de la pth peut orienter la recherche d’une mutation de cyp24a1.

El conocimiento de la fisiologia de la vitamina D ha progresado de forma considerable; su concepcion ha pasado de ser la de una hormona puramente fosfocalcica y osea a la de una hormona que desempena un papel en la salud global (papel antiinfeccioso, antiinflamatorio, antitumoral y protector cardiovascular). En paralelo a esta descripcion de efectos pleiotropos tanto en modelos celulares y animales como en estudios clinicos, cada vez hay mas estudios epidemiologicos que demuestran la importancia de la carencia de vitamina D en la poblacion general. La poblacion de los adolescentes probablemente sea una poblacion ideal para poner en marcha medidas de prevencion a largo plazo. El objetivo de esta actualizacion consiste en recordar los grandes principios de la fisiologia vitaminica D y proponer una lectura especifica para el adolescente sano.

Down syndrome (DS) is often associated with cardiac malformations, so that kidney damage is little known. The objective of this study was to present the diversity of renal abnormalities and their potential progression to chronic renal failure. Among congenital abnormalities of the kidney and urinary tract (CAKUT) abnormalities appear to be frequent: pyelectasis, megaureters, posterior urethra valves, as well as renal malformations such as renal hypoplasia, horseshoe kidney, or renal ectopia. Contributing factors to acute kidney failure have been described in patients with DS: bilateral lesions and minor renal injury, such as glomerular microcysts, tubular dilation, and immature glomeruli. Histological lesions can be found, albeit nonspecific; they occur earlier than in the general population. Two metabolic specificities have also been described: decreased clearance of uric acid and a hypercalciuria by passive hyperabsorption. End-stage renal disease can occur, thus raising the problem of the best choice of management. In conclusion, renal abnormalities in patients in DS should be known so as to preserve a good renal functional prognosis: systematic screening with renal ultrasound can be proposed.

These guidelines are intended to assist physicians in the care of children with chronic kidney disease (CKD), defined in children as in adults, regardless of its cause. Often silent for a long time, CKD can evolve to chronic renal failure or end-stage renal disease. Its management aims at slowing disease progression and treating CKD complications as soon as they appear. The different aspects of pediatric CKD care are addressed in these guidelines (screening, treatment, monitoring, diet, quality of life) as proposed by the French Society of Pediatric Nephrology. Highly specialized care provided in the hospital setting by pediatric nephrologists is not detailed.

Preterm neonates are particularly at risk of vitamin D (25-D) deficiency. To prevent rickets and osteopenia in this population, international guidelines vary between 800 and 1000IU per day of vitamin D in Europe and recommend 400IU per day in the USA. Target levels of circulating 25-D are not well identified, with the lower target level 50-75nmol/L and the upper target level probably 120nmol/L.Between 2013 and 2015, 16 premature infants (born35WG) were referred to pediatric nephrology clinics because of symptoms secondary to 25-D overdose during the neonatal period. Clinical and biological data were retrospectively reviewed to better define this population. The results are presented as the median (range).Gestational age was 27 (24-35)WG with a birth weight of 810 (560-2120)g. Nephrocalcinosis was the initial symptom in 37% of cases, hypercalcemia in 44%, and hypercalciuria in 19%. Daily vitamin D doses were 333 (35-676)IU. Age and body weight at initial symptom were 36.6 (27.6-47.6)WG and 2300 (640-3760)g, respectively. The 25-D level at the time of the first dosage was 210 (119-350)nmol/L and the 1-25 vitamin D level was 370 (245-718)pmol/L (local normal values for age240). During follow-up, 12 patients displayed nephrocalcinosis, ten hypercalciuria, and three hypercalcemia. The 25-D level normalized in ten patients within 10 (3-32)months after vitamin D withdrawal. Nephrocalcinosis improved in ten of 12 patients, within 12 (3-30)months. Vitamin D could be readministered in ten patients. When searched (n=3), no CYP24A1 mutation was identified in two patients, but was identified in the heterozygous state in one.A 25-D overdose should be systematically ruled out in the presence of nephrocalcinosis, hypercalcemia, and/or hypercalciuria during infancy in children born preterm. Studies are required to assess the exact frequency of 25-D deficiency and overdose in this population, as well as to evaluate the potential deleterious effects of this imbalance on bone, kidney, and brain development.

Introduction et but de l’etude La nutrition parenterale (NP) au long cours pourrait induire des complications osseuses : osteopenie, osteoporose et risque accru de fracture. L’absorptiometrie par rayons X est l’examen usuel pour evaluer la densite osseuse chez l’adulte. Les nouvelles techniques d’imagerie osseuse 3D, comme la mesure par tomographie quantitative haute resolution (HR-pQCT) permettent la mesure de densites volumetriques et l’evaluation de la microarchitecture osseuse. Le but de cette etude etait d’evaluer le statut osseux par HR-pQCT chez des adolescents en NP au long cours en comparaison avec des adolescents sains. Materiel et methodes Cette etude prospective cas-temoin a ete realisee entre mars 2014 et juin 2015. Les criteres d’inclusion etaient : âge > 9 ans et NP > 2 ans. Les parametres biologiques evalues etaient : calcium, phosphore, bicarbonates, osteocalcine, PTH, 25-OH vitamine D, phosphatases alcalines, et calcium/creatinine urinaire. L’HR-pQCT evaluait les densites minerales osseuses volumetriques de l’os total, cortical et trabeculaire ainsi que la microarchitecture osseuse : epaisseur corticale et parametres trabeculaires aux extremites distales du radius et du tibia. Chaque patient etait apparie sur l’âge, le genre, le sexe avec 2 enfants sains issus d’une cohorte locale. Resultats et analyse statistique Onze patients (3 filles) ont ete inclus, âge median (min–max) : 16 ans (9–19). La duree mediane de NP etait 122 mois (84–220). Les etiologies d’insuffisance intestinale etaient : 6 greles courts, 3 enteropathies congenitales, 1 deficit immunitaire et 1 lymphangiectasie. Les patients en NP etaient plus petits (−2 vs 0,3 DS, p A l’extremite distale du radius, en HR-pQCT les 10 parametres mesures n’etaient pas differents entre les deux groupes. Au niveau du tibia, seules la surface trabeculaire etait plus faible et la separation trabeculaire plus importante chez les patients. Conclusion Dans cette etude prospective cas-temoin nous observons chez les patients en NP au long cours : (1) un statut osseux rassurant, (2) une augmentation de la PTH malgre des taux de vitamine D similaires et (3) des taux d’osteocalcine plus bas.

Resume Le Blueberry Muffin Baby est un syndrome cutane rare observe en periode neonatale qui se traduit par des papulonodules dissemines inflammatoires. Plusieurs causes doivent etre recherchees, notamment les infections congenitales, les maladies hemolytiques neonatales et les pathologies tumorales. Nous rapportons le cas d’un nouveau-ne presentant ce syndrome associe a une masse sur-renalienne ayant conduit au diagnostic initial de neuroblastome. Il s’agissait en fait d’une localisation sur-renalienne d’une leucemie aigue monoblastique avec atteinte meningee. Devant tout Blueberry Muffin Baby, il parait important d’evoquer une leucemie, meme lorsque les numerations et le myelogramme ne trouvent pas de blastes, ce qui etait le cas chez cette patiente. Cette observation est egalement particuliere par la survenue d’une remission spontanee, persistante a 1 an.

With the increasing life expectancy of patients with cystic fibrosis (CF), prevalence of late complications such as CF-related bone disease (CFBD) has increased. It was initially described in 24% of the adult population with CF and has also been reported in the pediatric population. CFBD is multifactorial and progresses in different steps. Both decreased bone formation and increased bone resorption (in different amounts) are observed. CFBD is likely primitive (directly related to the CFTR defect itself), but is also worsened by acquired secondary factors such as lung infections, chronic inflammation, denutrition, vitamin deficiency, and decreased physical activity. CFBD may be clinically apparent (i.e., mainly vertebral and costal fractures), or clinically asymptomatic (therefore corresponding to abnormalities in bone density and architecture). CFBD management mainly aims to prevent the occurrence of fractures. Prevention and regular monitoring of bone disease as early as 8 years of age is of the utmost importance, as is the control of possible secondary deleterious CFBD factors. New radiological tools, such as high-resolution peripheral quantitative computed tomography, allow an accurate evaluation of cortical and trabecular bone micro-architecture in addition to compartmental density; as such, they will likely improve the assessment of the bone fracture threat in CF patients in the near future.