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Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the overall prognosis. In this document, we have summarized expert opinions on several aspects of the disease to improve knowledge and provide guidance for diagnosis and treatment.

Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination of homozygosity mapping and whole human exome resequencing, we identified mutations in the aarF domain containing kinase 4 (ADCK4) gene in 15 individuals with SRNS from 8 unrelated families. ADCK4 was highly similar to ADCK3, which has been shown to participate in coenzyme Q10 (CoQ10) biosynthesis. Mutations in ADCK4 resulted in reduced CoQ10 levels and reduced mitochondrial respiratory enzyme activity in cells isolated from individuals with SRNS and transformed lymphoblasts. Knockdown of adck4 in zebrafish and Drosophila recapitulated nephrotic syndrome-associated phenotypes. Furthermore, ADCK4 was expressed in glomerular podocytes and partially localized to podocyte mitochondria and foot processes in rat kidneys and cultured human podocytes. In human podocytes, ADCK4 interacted with members of the CoQ10 biosynthesis pathway, including COQ6, which has been linked with SRNS and COQ7. Knockdown of ADCK4 in podocytes resulted in decreased migration, which was reversed by CoQ10 addition. Interestingly, a patient with SRNS with a homozygous ADCK4 frameshift mutation had partial remission following CoQ10 treatment. These data indicate that individuals with SRNS with mutations in ADCK4 or other genes that participate in CoQ10 biosynthesis may be treatable with CoQ10.

Abstract Cytomegalovirus is common in adult recipients (prevalence of 40–90%). Children are typically seronegative but immunosuppression may prone to primary-infection or viral reactivation, with potentially severe consequences. CMV infection incidence in pediatric kidney transplant recipients has seldom been investigated. The aim of our study was to evaluate the incidence and timing of CMV infection during the first year after renal transplantation. We assembled a retrospective cohort of 136 children who had received a kidney transplant between 2003 and 2014 with a year follow-up. The patients were classified regarding CMV infection as high risk (D+/R−), intermediate risk (R+) or low risk (D−/R−). CMV infection was defined by the viral replication remaining asymptomatic whereas CMV disease concerned viral replication with clinical and/or biological symptoms. Oral valganciclovir was used as prophylaxis for high-risk recipients. A total of 38 patients (27.9%) developed CMV infection, 13 (40.6%) of the 32 D+/R−, 24 (45.3%) of the 53 R+ and 1 (2.0%) of the 51 D−/R−. Of these 38 infected patients, 10 developed tissue-invasive disease. During the first year after kidney transplantation, 27.9% of recipients developed CMV infection. This study confirms the influence of donor and recipient CMV status on infection propensity and highlights the importance of adequate follow-up for intermediate risk patients. [ABSTRACT FROM AUTHOR]

Munchausen syndrome by proxy is a persistent fabrication of illness done by a person to another. Renal and urologic forms of this syndrome are not as uncommon as can be thought; a review of all the cases of Munchausen-by-proxy syndrome reveals that 25% of the children had renal or urologic issues. This syndrome can result in a serious diagnostic dilemma for the physicians; knowing this entity can allow early recognition of falsification and limit the physical and psychological damages caused in the victim. In this study, we reviewed the pediatric nephrology cases of Munchausen syndrome by proxy, grouping them through the principal signs of presentation. [ABSTRACT FROM AUTHOR]

Copyright of Néphrologie & Thérapeutique is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Néphrologie & Thérapeutique is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract: Recent advances in the knowledge of physiology, genetics, imaging, and therapeutics have lead to novel practical approaches in paediatric nephrology. Many inherited syndromes have been revisited in order to identify precise renal diseases at the molecular level. In addition, a large number of epidemiological studies and clinical trials have allowed guidelines and recommendations to be provided for chronic and end-stage renal failure, urinary tract infection, glomerular diseases, etc. [Copyright &y& Elsevier]

Abstract: A cross-sectional study was performed to assess quality of life (QoL) after kidney or liver transplantation during childhood. Self-questionnaires explored children, adolescent and parent QoL. Seventy-five transplant children, 36 transplant adolescents, 67 mothers, 34 fathers and 67 caregivers filled out the questionnaires; they were compared with a reference population. Children reported a rather good QoL, but their extra-family involvement appeared not as satisfactory as that of the reference population children. Adolescents reported a very high QoL when completing the structured format scale; however, their responses to open-ended questions showed qualitative differences compared with those of a reference population: they expressed concern about their body or health, less pleasure than ordinary adolescents to manage by themselves, and a poor relationship with peers. Mothers indicated a deep impact of the child's illness on their own QoL, and the need for psychological support. In conclusion, a rather good QoL is a long-lasting feature of kidney and liver transplantation in children. Such an assessment is mandatory to identify remaining impairments in some selected areas, either in the recipient or family. [ABSTRACT FROM AUTHOR]

Copyright of Néphrologie & Thérapeutique is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract: Objective. – Evaluation of physical capacity in kidney transplanted children for sport practice adequacy. Population and methods. – A retrospective study was carried out in 32 children transplanted at least one year before evaluation. We studied auxology, respiratory function testing, cardiovascular parameters at rest and after exercise, and aerobic capacity performed during a triangular effort test. Results. – Kidney transplanted children were smaller and had a higher body mass index (IMC). Breathing parameters and cardiac ultrasound examinations were normal in all but one child. After exercise, four children had high systolic blood pressure requiring a treatment adaptation. Lower values of maximal aerobic power (Pmax) and oxygen maximal uptake (VO2max) were noticed, mainly in girls. Conclusion. – Kidney transplanted children have a good physical exercise tolerance. Therefore they can be allowed to practise sports at school or in a club after a normal effort test (taking into account the risk of transplant trauma). [Copyright &y& Elsevier]

Childhood-onset systemic lupus erythematosus (SLE) is often severe and has a serious long-term morbidity. Pediatric guidelines about its management do not exist. The French study group of childhood-onset SLE proposes recommendations about the investigation which are needed at diagnosis and during follow-up of SLE, in order to adjust the treatment according to the severity of the disease and to avoid unnecessary investigations. [Copyright &y& Elsevier]

The aim of the study was to analyse retrospectively the patient survival and mortality risk factors in renal transplant children at Edouard-Herriot hospital, Lyon.Patients and Methods. – One hundred and ninety four patients 0 to less than 18 years of age received a renal transplant between April 1987 and January 2002. We collected data concerning the age at transplantation, the mean duration of dialysis prior to transplantation, the type of donor (living related: LRD, or cadaver: CAD) as well as long term follow-up of all the patients. Eleven patients died during the study period and we collected mortality and morbidity factors.Results. – Mean age at transplantation was 9.5 years (range: 0.6–17.9 years); 16 children were transplanted before 2 years of age. Eighty six percent received a first graft, 10% a second graft, and 3% a third graft. One third of the patients had preemptive transplantation. The graft was carried out respectively from a LRD in 18% and from CAD in 82% of the cases. Eleven patients (5.7%) died during this period; four of them were transplanted twice. Death occurred within 2.4 years after transplantation (range: 2 days–6.3 years). Five of these deceased children developed an acute rejection episode treated with methylprednisolone pulses and OKT3 monoclonal antibodies. Four had a cytomegalovirus (CMV) infection and three required repeated surgery. The causes of death were bacterial infections (4/11), CMV infection (2/11), neurological involvement (2/11), Burkitt lymphoma (1/11) and unexplained sudden death (2/11).Conclusion. – The main causes of deaths in renal transplant children are bacterial infections. The improvement in patient survival probably will come from both better preventive approach to nosocomial infections and a less aggressive immunosuppression. [Copyright &y& Elsevier]

Systemic Lupus Erythematosus (SLE) remains a challenging autoimmune disease in term of etiology, pathogenesis and treatment. It is estimated that 10–17% of lupus patients present before the age of 16. SLE in children appears to have more severe organ involvement than in adults. The outcome of childhood SLE has improved during the last decade, but the morbidity remains high. [Copyright &y& Elsevier]

Objective – Kidney transplantation is the best treatment for end-stage renal disease. This procedure is by now routinely used and permits children survival and rehabilitation. We describe the surgical complications of kidney graft in our paediatric experience.Materials and Methods – From April 1987 to August 2000, 175 kidney transplantation were proceeded in the department of urology and transplantation in E´douard Herriot Hospital  (Lyon). Twenty-nine kidneys (17%) were from living related donors and 146 (83%) were from cadaveric donors. We evaluated 148 kidney transplantation (132 patients) in 79 male and 53 female children. Mean age was ten years (range: seven months to 18 years). Twelve allografts were from living related donors and 136 cadaveric donors.Results – Twelve patients died of various medical complications. One patient was lost of sight. Surgical complications were postoperative bleeding, lymphocele, urologic and digestive troubles. The rest of our patients had uneventful evolution.Conclusion – A general commitment is the only way to promote organ donation and  enable patients with terminal renal failure to have access to renal transplantation. [Copyright &y& Elsevier]

Abstract: MURCS association includes Mullerrian duct aplasia–hypoplasia (MU), renal malformations (R) and cervicothoracic somite dysplasia (CS). This rare disease (1/50 000 females) is sporadic and of unknown aetiology. The reported case is the first one with additional esophageal atresia and ovarian mature teratoma. Esophageal atresia first led to the diagnosis of VACTERL association, which is more frequent and well known, showing that the identification of such malformative association may be challenging. The presence of mullerrian abnormality has allowed the diagnosis of MURCS association, as there is no mullerrian hypoplasia in VACTERL association. Therefore the association of isolated or combined renal and cervical malformation with VACTERL features should lead to the search for mullerrian abnormalities. [Copyright &y& Elsevier]