[Autosomal dominant polycystic kidney disease : a pediatric perspective]. / Polykystose rénale autosomique dominante : perspective pédiatrique.

Polycystic kidney disease (PKD) is the most prevalent inherited kidney disease. The disease is usually asymptomatic until adulthood. End-stage renal disease occurs generally after the age of 55 years, with a large inter-individual variability. Renal cyst formation begins early in life, and animal models have shown that treatments able to prevent the cyst growth slow down the renal function decline. A treatment by tolvaptan is currently used in adults to decelerate PKD progression. Until now there is no consensus about the appropriate time to screen for PKD in children. However, these scientific progresses raise the interest of determining early (i.e. pediatric) predictive markers of renal function decline.

La polykystose rénale autosomique dominante (PRAD) est la maladie rénale génétique la plus fréquente. Le développement insidieusement progressif des kystes rénaux fait que la PRAD est, le plus souvent, asymptomatique jusqu'à l'âge adulte, mais la croissance kystique survient très précocement. L'insuffisance rénale terminale survient, généralement, après l'âge de 55 ans, avec, cependant, une grande variabilité interindividuelle. Les modèles animaux montrent que les traitements ralentissant la croissance du volume rénal freinent parallèlement le déclin de la fonction rénale. Par ailleurs, un traitement récemment utilisé chez l'adulte (le tolvaptan) permet de ralentir la progression de la PRAD. A ce jour, il n'y a pas de consensus sur l'âge de dépistage de la PRAD chez les enfants. Toutefois, les récentes avancées scientifiques suggèrent l'intérêt de déterminer des marqueurs prédictifs précoces, y compris pédiatriques, du déclin de la fonction rénale.

[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation]. / Syndrome néphrotique congénital sévère avec mutation NPH S1.

The congenital nephrotic syndrome is a rare and severe pathology, and its management represents a real challenge for pediatric nephrologists. We report the case of a congenital nephrotic syndrome secondary to a homozygous mutation of the NPHS1. The young patient has a severe clinical course, and benefits of a management by anti-proteinuric treatment and a unilateral nephrectomy. This clinical case illustrates the difficulties of the management of a severe congenital nephrotic syndrome. To date, it is difficult to identify these patients beforehand because there is a poor correlation between the genotype and the phenotype of the NPHS1 mutation. There are two managements described in the literature: an early bilateral nephrectomy at 7 kg of weight with a renal transplant around 10 kg, versus a conservative management via an anti-proteinuric treatment and/or an unilateral nephrectomy. Current evidence is based on retrospective studies and the choice of a conservative approach versus early bilateral nephrectomy should take into account the severity of protein loss and its complications.

Le syndrome néphrotique congénital est une pathologie rare et sévère, dont la prise en charge représente un défi pour les néphrologues pédiatriques. Nous rapportons le cas d'un jeune patient présentant cette pathologie secondaire à une mutation homozygote du gène NPHS1. Il présente un tableau clinique sévère et bénéficie d'un traitement anti-protéinurique et d'une néphrectomie unilatérale. Ce cas clinique illustre les difficultés de la prise en charge des cas sévères, dont l'identification préalable est difficile à ce jour car la corrélation entre le génotype et le phénotype de la mutation NPHS1 est pauvre. Il existe deux prises en charges décrites dans la littérature : une néphrectomie bilatérale précoce vers 7 kg de poids et une greffe rénale vers 10 kg, ou bien une prise en charge conservative via un traitement anti-protéinurique et/ou une néphrectomie unilatérale permettant de postposer la greffe. Les données actuelles n'étant basées que sur des études rétrospectives, le choix entre une approche conservative et une néphrectomie bilatérale précoce doit prendre en compte la sévérité de la déperdition protéique et ses complications.

Haemolytic uremic syndrome surveillance in children less than 15 years in Belgium, 2009-2015.

BACKGROUND: The Haemolytic Uremic Syndrome (HUS) is the most severe manifestation of infection with Shiga toxin-producing Escherichia coli (STEC). In Belgium, the surveillance of paediatric HUS cases is conducted by a sentinel surveillance network of paediatricians called Pedisurv. In this article, we present the main findings of this surveillance from 2009 to 2015 and we describe an annual incidence of HUS. METHODS: For each case of HUS <  15 years notified by the paediatricians, clinical, microbiological and epidemiological data were collected by a questionnaire. National hospital discharge data with ICD-9 code 283.11 were used to calculate the incidence of HUS in children < 15 years. RESULTS: From 2009 to 2015, 110 cases were notified to the Pedisurv network with a mean annual notification rate of 0.8/100,000 in children < 15 years. Death occurred in 2.5% of all patients and the median number of days of hospitalization was 10 days. One third (35.4%) of the HUS cases were confirmed positive STEC, with a majority of STEC O157. The mean annual incidence based on the hospital discharge data was 3.2/100,000 in children < 15 years and 4.5/100,000 in children < 5 years. CONCLUSION: The incidence of paediatric HUS in Belgium is high compared to other European countries. Its surveillance in Belgium is quite comprehensive and, although less effective than monitoring all STEC infections to detect the emergence of outbreaks, is important to better monitor circulation of the most pathogenic STEC strains. In this context, efforts are still needed to send samples and STEC strains from HUS cases to the National Reference Centre.

Pituitary adenylate cyclase-activating polypeptide deficiency associated with increased platelet count and aggregability in nephrotic syndrome.

BACKGROUND: Pituitary adenylate cyclase-activating polypeptide (PACAP) was recently identified as an inhibitor of megakaryopoiesis and platelet aggregability. OBJECTIVE: We studied PACAP levels in children with nephrotic syndrome (NS), which is associated with thrombocytosis, platelet hyperaggregability, and an increased risk of thrombosis. PATIENTS/METHODS: In four children with congenital NS (CNS) and 24 children with idiopathic NS (INS), plasma and urine levels of PACAP and ceruloplasmin were measured, as were platelet counts and platelet aggregation responses to collagen. In CNS patients, in vitro megakaryopoiesis and nuclear factor-κB expression in platelet lysates were also measured. All tests were performed during the nephrotic state and the non-nephrotic state. RESULTS: Urinary losses of PACAP and ceruloplasmin were observed during the nephrotic state, and disappeared during the non-nephrotic state. Plasma PACAP deficiency was more pronounced in CNS patients than in INS patients. Thrombocytosis was observed in all CNS patients and in 11 of 29 INS patients during the nephrotic state. During the PACAP-deficient state, in vitro megakaryopoiesis was increased for CNS patients, and this effect could be reversed by the addition of recombinant PACAP. Platelet hyperaggregability was observed during the nephrotic state in both CNS and INS patients. In INS patients, the addition of recombinant PACAP to patients' platelets was studied, and resulted in decreased aggregation during the nephrotic state. Platelet aggregation correlated inversely with plasma PACAP levels, but not with serum albumin levels. CONCLUSIONS: We demonstrate urinary losses of PACAP and plasma PACAP deficiency in children with NS, associated with thrombocytosis and platelet hyperaggregability.

Comparison of expert and nonexpert swimmers' opinions about the value, potency, and activity of four standard swimming strokes and underwater undulatory swimming.

Underwater undulatory swimming (UUS) is often perceived to be a nonessential aspect of aquatic propulsion. Given their solid theoretical and practical training in swimming, physical education students should be capable of judging the true value of the "fifth stroke," since it appears to be the most efficient technique in high level, competitive swimming. To compare opinions and connotations associated with the stroke and the four official strokes (butterfly, backstroke, breaststroke, and crawl), 198 students (32 of whom were expert swimmers; M age = 20.6 yr., SD = 1.2), were surveyed using the semantic differential of Osgood, Suci, and Tannenbaum. Although answers of expert and nonexpert swimmers differed significantly (p < .01, except for the breaststroke), participants considered overall that undulatory stroke was less attractive, less powerful, and less rapid than the four surface strokes (d = 2.88 for the expert swimmers). Putting one arm in front of the other and repeating the sequence still remains the most solidly held representation of "the right way" to swim. However, the high observed standard deviations for the underwater undulatory stimulus (SD > or = 1.1 with SD max = 3 for the expert swimmers) attests to the view being less strongly held by swimming specialists.

[Hymenoptera venom anaphylaxis and in-vitro diagnostic tools: new approaches to manage patients at high risk of a severe reaction]. / Allergie au venin d'hyménoptère et tests de laboratoires: de nouvelles approches pour la prise en charge des patients a haut risque de réaction sévère.

The consequences of Hymenoptera venom anaphylaxis are very severe but it is not obvious to predict which reactions will occur in one single patient when he is stung for the second time. For a couple of years, many new laboratory tests have been experimented and many studies published. CAST, BAT, WB, tryptase, sIgE and sIgG4 are the new valuable additional diagnostic tools that can help the decision to perform an immunotherapy or to discontinue this therapy after 3 years. The aim of our study was to determine which could be the profile of a desensitized patient and to screen for good candidates for venom immunotherapy.

Motor skills transfer from gymnastics to swimming.

99 adult specialists in combat sports (n = 21), team sports (n = 37), gymnastics (n = 22), and swimming (n = 19) (M age = 20 yr., SD = 2; 64 young men, 35 young women) performed three 25-m swimming tasks whilst "blindfolded" by opaque goggles: front crawl in a straight line, dolphin-kicking on the back, and dolphin-kicking on the front. Even though the gymnasts (like the swimmers) were at ease in all 3 situations, the motor skills of the "motor interaction" specialists (team sports, combat sports) put the latter at a disadvantage. The similarities between the gymnasts' and swimmers' behavior (confirmed using factorial correspondence analysis with the TRIDEUX program) are undoubtedly related to the fact that these sportspersons essentially live in the same sensory space in their respective practices: exteroceptive information is subordinated by proprioceptive information. In contrast, the 99 subjects' timed freestyle swimming performances over 75 m depended so much on their physical and anthropometric qualities that the results were independent of the sporting specialties for the novice swimmers. Hence, the mere fact that the 22 gymnasts, who tended to be shorter, with a higher proportion of women, were more at ease in the water did not turn them into great performers.

[Clinical case of the month. Nutcracker syndrome in association with a painful nephrologic disease]. / Le cas clinique du mois. L'anatomie au secours des cliniciens face à une douleur répétitive abdominale: le syndrome de la pince aorto-mésentérique.

Compression of the left renal vein between the aorta and the superior mesenteric artery causes a physiological condition, the so-called nutcracker phenomenon, but it can sometimes lead to left venous hypertension, or "nutcracker syndrome". Classical manifestations of which are an association of left flank pain, unilateral proteinuria and unilateral hematuria, without renal impairment. We report an atypical association of nutcracker syndrome with IgM nephropathy.

[Urolithiasis in children and adolescents]. / Lithiase urinaire de l'enfant et l'adolescent.

Urolithiasis is rare in children. Contrary to adults, the great majority have an identifiable predisposing cause, metabolic, infectious or structural. Those causes often coexist. A complete assessment for all these factors is thus always indicated. Symptoms are often non-specific. The diagnosis must be considered in case of intense abdominal pain. The majority of urolithiasis in children are radiopaque. Ultrasonography looks for impairment of the urinary flow, signs of underlying uropathy and nephrocalcinosis. Non contrast spiral CT scan is more sensitive for soft stones and ureteral stones. Morphoconstitutional analysis of the calculi provides essential information on etiology, limitating further metabolic evaluation. If the stone seems unlikely to pass spontaneously, extra-corporeal shock wave lithotripsy is the first-line treatment for the great majority of children. Recurrence is common. Long-term medical treatment is essential. The first step is to maintain a high urine output by increasing water intake. Long-term prognosis is dependent on early diagnosis and on compliance to treatment.

Similarities and differences in eyewitness testimonies of children who directly versus vicariously experience stress.

This study tested questions of ecological validity by comparing the eyewitness testimonies of children directly experiencing a painful inoculation experience those of children in a yoked-control group who vicariously experienced the inoculation onwith videotape. The study involved 86 5-year-olds, divided between 2 groups: the experiential and yoked control. The experiential group was followed through a health department with a video camera as they received diphtheria, pertussis, tetanus (DPT), and oral polio inoculations. They were tested immediately, 20 min later, and 1 month later. Each child in the yoked-control group merely watched the videotape of his or her counterpart in the experiential group, made similar ratings of pain, and was given the same tests and suggestions. Stress and personal experience affected items congruent with the stressor to produce flashbulb-like memories, with slower rates of forgetting for some items, such as nurse identifications, and greater suggestibility for other items, such as estimates of needle size. These and the apparently conflicting results in the literature were said to make sense when personally experienced stress was viewed from S.-A. Christianson's (1992) interactive perspective rather than as a single ubiquitous variable.