A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing.

Objective: Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is characterized by severe polyuria and polydipsia and is caused by variations in the gene encoding the AVP prohormone. This study aimed to ascertain a correct diagnosis, to identify the underlying genetic cause of adFNDI in a Swedish family, and to test the hypothesis that the identified synonymous exonic variant in the AVP gene (c.324G>A) causes missplicing and endoplasmic reticulum (ER) retention of the prohormone.

Transanal irrigation is effective in functional fecal incontinence.

Unlabelled: Functional fecal incontinence (FFI) is divided into cases related to functional constipation (FC) and cases without concomitant constipation termed functional non-retentive fecal incontinence (FNRFI). Transanal irrigation (TAI) is widely used in children with neurogenic fecal incontinence but is less studied in children with functional defecation disorders. The aim was to evaluate the feasibility and efficacy of TAI in the treatment of FFI.

A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome.

Aim: Bartter syndrome is an autosomal-recessive inherited disease in which patients present with hypokalaemia and metabolic alkalosis. We present two apparently nonrelated cases with antenatal Bartter syndrome type I, due to a novel variant in the SLC12A1 gene encoding the bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2 in the thick ascending limb of the loop of Henle.

Methods: Blood samples were received from the two cases and 19 of their relatives, and deoxyribonucleic acid was extracted.

Bladder and bowel dysfunction and the resolution of urinary incontinence with successful management of bowel symptoms in children.

Aim: To investigate the effect of treating defecation problems on urinary incontinence in children suffering from combined urinary bladder and bowel dysfunction (BBD).

Methods: We established a clinical database from medical records of all children referred to the urinary incontinence and gastroenterology outpatient clinics with BBD. The following variables were extracted: symptoms of constipation, faecal incontinence, urinary incontinence, age at onset of symptoms, treatment, including duration and response.

Management of functional constipation in children with lower urinary tract symptoms: report from the Standardization Committee of the International Children's Continence Society.

Purpose: We present a consensus view of members of the International Children's Continence Society (ICCS) together with pediatric gastroenterologists, experts in the field of functional gastrointestinal disorders, on the management of functional constipation in children with lower urinary tract symptoms.

Materials And Methods: Discussions were held by the board of the ICCS and a multidisciplinary core group of authors was appointed. The draft document review process was open to all ICCS members via the website.