Suivi gynécologique des patientes atteintes d’un spina bifida

National audienceObjectives - Few studies have focused on reproductive health care for women with spina bifida. This subject is rarely discussed, whether in patient groups or in the medical community. However, these patients need advice and a care that is appropriate to their condition. Methods - In association with the spina bifida reference center of the University Hospital of Rennes, we have conducted a four-year retrospective, observational study. Its aim was to analyze the characteristics of the patients' gynecological care and to adapt our practice to their needs. Results - Forty-eight patients were included. We demonstrated an increased risk of precocious puberty, labia minora hypertrophy and genital prolapse. Conclusion - Some specific characteristics of the reproductive health care of patients with spina bifida are interesting to know. A study on a larger series of patients is needed to further analyze the obstetric, gynecological and sexological issues of these women

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

Journal ArticleAuthor version of article submitted to Nature Reviews Nephrology. The definitive version is available from Nature Publishing Group via http://dx.doi.org/10.1038/nrneph.2014.232. First published online 23 Deceember 2014.ReviewHeterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1β (HNF1B) represent the most common known monogenic cause of developmental kidney disease. Renal cysts are the most frequently detected feature of HNF1B-associated kidney disease; however, other structural abnormalities, including single kidneys and renal hypoplasia, and electrolyte abnormalities can also occur. Extra-renal phenotypes might also be observed; consequently, HNF1B-associated disease is considered a multi-system disorder. Other clinical features include early-onset diabetes mellitus, pancreatic hypoplasia, genital tract malformations, abnormal liver function and early-onset gout. Heterozygous mutations in the coding region or splice sites of HNF1B, and complete gene deletion, each account for ∼50% of all cases of HNF1B-associated disease, respectively, and often arise spontaneously. There is no clear genotype-phenotype correlation, consistent with haploinsufficiency as the disease mechanism. Data from animal models suggest that HNF1B has an important function during several stages of nephrogenesis; however, the precise signalling pathways remain to be elucidated. This Review discusses the genetics and molecular pathways that lead to disease development, summarizes the reported renal and extra-renal phenotypes, and identifies areas for future research in HNF1B-associated disease.Medical Research Council (MRC)National Institute for Health ResearchWellcome Trus