Мета: оновити клінічні практичні настанови щодо вродженої гіперплазії надниркових залоз унаслідок дефіциту 21-гідроксилази, що були опубліковані Ендокринним Товариством у 2010 році. Висновки: представлені оновлені рекомендації з найкращої практики щодо клінічного управління вродженою гіпер­плазією надниркових залоз на основі опублікованих даних та експертної думки з додатковими міркуваннями щодо безпеки пацієнтів, якості життя, витрат та використання (J. Clin. Endocrinol. Metab. 103: 1—46, 2018).

Вроджена гіперплазія надниркових залоз внаслідок дефіциту 21-гідроксилази. Клінічні практичні настанови Ендокринологічного Товариства. Частина 1

Update on Urological Management of Spina Bifida from Prenatal Diagnosis to Adulthood

All Incontinence is Not Created Equal: Impact of Urinary and Fecal Incontinence on Quality of Life in Adults with Spina Bifida

Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition. We thus conclude that the need to study spina bifida in all its forms, both aperta and occulta, is more indicative of the spina bifida in surviving humans and that the measure of deterioration arising from caudal neural tube defects, more commonly known as spina bifida, must be determined by the level of the lesion both in mouse and in man.

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Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans.

Introduction Advances in care have allowed most children with spina bifida (SB) to live to adulthood. The majority have neuropathic bowel dysfunction (NBD), resulting in constipation, incontinence, and diminished quality of life. We sought to 1) describe contemporary NBD management and continence outcomes of adults with SB; 2) describe differences from younger patients; and 3) assess for association with socio-economic factors. Methods We analyzed data on NBD management and continence from the National Spina Bifida Patient Registry (NSBPR). Patients were segregated into young children (5-11 years), adolescents (12-19 years), and adults (20 years and older). A strict definition of continence was utilized. Statistical analysis compared cohorts by gender, ethnicity, SB type, lesion level, insurance status, educational attainment, employment status, and continence. Results A total of 5209 SB patients were included, of whom 1370 (26.3%) were adults. Management and continence varied by age and SB type. Oral medication use did not differ between groups (5.2-6.6%). Suppositories and rectal enemas were used only by 11.5% of adults, which was significantly less than among school-aged children. Antegrade enemas were used by 17.7% of adults which was significantly less than among adolescents (27.2%). Adults were more likely to use digital stimulation or disimpaction or have undergone a colostomy. Bowel continence was reported by 58.3% of overall adult cohort: 55.6% of adults with myelomeningocele and 74.9% with non-myelomeningocele. Bowel continence was significantly associated with employment (p= 0.0002), private insurance (p= 0.0098), non-myelomeningocele type of SB (p= 0.0216) and educational attainment (p= 0.0324) on univariate analysis but only with employment on multivariable logistic regression (p= 0.0027). Conclusions Bowel management techniques differed between adults and younger patients with SB. Bowel continence was reported by over half of SB adults and was associated with socio-economic factors.

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Bowel management and continence in adults with spina bifida: Results from the National Spina Bifida Patient Registry 2009-15.

Long-term outcomes of catheterizable continent urinary channels: What do you use, where you put it, and does it matter?

Incontinence affects health-related quality of life in children and adolescents with spina bifida

Quality of Life Assessment in Spina Bifida for Children (QUALAS-C): Development and Validation of a Novel Health-related Quality of Life Instrument.

Purpose
Health-related quality of life (HRQOL) is important in spina bifida (SB) management. No clinically useful, comprehensive instrument incorporating bladder/bowel domains exists. We aimed to develop and validate a self-reported QUAlity of Life Assessment in Spina bifida for Adults (QUALAS-A).

QUAlity of Life Assessment in Spina bifida for Adults (QUALAS-A): development and international validation of a novel health-related quality of life instrument

Richard C. Rink

Papers

All Incontinence is Not Created Equal: Impact of Urinary and Fecal Incontinence on Quality of Life in Adults with Spina Bifida

Long-term outcomes of catheterizable continent urinary channels: What do you use, where you put it, and does it matter?

Incontinence affects health-related quality of life in children and adolescents with spina bifida

Quality of Life Assessment in Spina Bifida for Children (QUALAS-C): Development and Validation of a Novel Health-related Quality of Life Instrument.

QUAlity of Life Assessment in Spina bifida for Adults (QUALAS-A): development and international validation of a novel health-related quality of life instrument