This review provides a comprehensive view of translational research aimed at elucidating the pathophysiology of pediatric lower urinary tract dysfunction (LUTD). A web search was conducted according to combinations of keywords, and the significance of each article was defined by the author. The dramatic evolution of the mass analysis method of genomes, transcripts, and proteins has enabled a comprehensive analysis of molecular events underlying diseases, and these methodologies have also been applied to pediatric LUTD. In genetic analyses of syndromes underlying daytime incontinence, urofacial (Ochoa) syndrome may be creating a prototype of a new research approach. Nocturnal enuresis has long been studied genetically, and several candidate loci have been reported. However, the pursuit for enuresis genes has been abandoned partly because genetic association and enuresis phenotype (bladder or renal type) could not be linked. Enuresis associated with diabetes insipidus has provided new insights into the etiology of the diseases. A chronobiological approach may shed new light on this area. Posterior urethral valves and neurogenic bladders have attracted the interest of pediatric urologists to the smooth muscle biology of the bladder. Bladder exstrophy and cloacal anomalies are rare but major anomalies caused by defective urorectal development and have recently been studied from a genetic standpoint. Translational studies for pediatric LUTD may be extended to adult bladder disease, or to application of precision medicine for diseased children.
Adult ; Biology ; Bladder Exstrophy ; Child ; Diabetes Insipidus ; Enuresis ; Genome ; Genomics ; Humans ; Lower Urinary Tract Symptoms ; Methods ; Muscle, Smooth ; Nocturnal Enuresis ; Pediatrics ; Phenotype ; Precision Medicine ; Translational Medical Research* ; Urinary Bladder ; Urinary Bladder Diseases ; Urinary Incontinence ; Urinary Tract*

This review provides a comprehensive view of translational research aimed at elucidating the pathophysiology of pediatric lower urinary tract dysfunction (LUTD). A web search was conducted according to combinations of keywords, and the significance of each article was defined by the author. The dramatic evolution of the mass analysis method of genomes, transcripts, and proteins has enabled a comprehensive analysis of molecular events underlying diseases, and these methodologies have also been applied to pediatric LUTD. In genetic analyses of syndromes underlying daytime incontinence, urofacial (Ochoa) syndrome may be creating a prototype of a new research approach. Nocturnal enuresis has long been studied genetically, and several candidate loci have been reported. However, the pursuit for enuresis genes has been abandoned partly because genetic association and enuresis phenotype (bladder or renal type) could not be linked. Enuresis associated with diabetes insipidus has provided new insights into the etiology of the diseases. A chronobiological approach may shed new light on this area. Posterior urethral valves and neurogenic bladders have attracted the interest of pediatric urologists to the smooth muscle biology of the bladder. Bladder exstrophy and cloacal anomalies are rare but major anomalies caused by defective urorectal development and have recently been studied from a genetic standpoint. Translational studies for pediatric LUTD may be extended to adult bladder disease, or to application of precision medicine for diseased children.
Adult ; Biology ; Bladder Exstrophy ; Child ; Diabetes Insipidus ; Enuresis ; Genome ; Genomics ; Humans ; Lower Urinary Tract Symptoms ; Methods ; Muscle, Smooth ; Nocturnal Enuresis ; Pediatrics ; Phenotype ; Precision Medicine ; Translational Medical Research* ; Urinary Bladder ; Urinary Bladder Diseases ; Urinary Incontinence ; Urinary Tract*

Exstrophy of the bladder is a rare congenital anomaly with an incidence of about 1 per 50,000 newborns. The malignant potential of the exstrophied bladder mucosa is well known; 95% are adenocarcinomas, and 3% to 5% are squamous cell carcinomas. Most of the malignant tumors (60%) associated with an exstrophy of the bladder occur during the fourth and fifth decades of life. Of the remaining, about 20% each occur after 60 years and before 40 years. Here we present a case in which squamous cell carcinoma developed in an unrepaired exstrophy of the bladder. We present the management of the case and a brief review of the literature.
Adenocarcinoma ; Bladder Exstrophy ; Carcinoma, Squamous Cell ; Humans ; Incidence ; Infant, Newborn ; Mucous Membrane ; Urinary Bladder ; Urinary Bladder Neoplasms

Carcinomas arising from an exstrophic urinary bladder are rare entities, and only seven such cases have been reported in the literature. We present the eighth case of advanced squamous cell carcinoma arising from an exstrophic bladder, with a pertinent review of the literature. The mean age of the patients was 54.9 years, with a male to female ratio of 3:1. The average duration of symptoms was 18.6 months. The appearance of a new growth was the most common symptom. Three patients had stage I disease, one patient each had stage II and III disease, two patients had stage IV disease, and the disease stage was not known in one patient. Five out of these eight patients underwent surgery. Four patients in the treatment group remained disease-free, with a mean survival period of 30 months. In conclusion, regular surveillance with cystoscopy is advised in all cases that had primary closure of the exstrophic bladder.
Adult ; Biopsy ; Bladder Exstrophy ; complications ; diagnosis ; surgery ; Carcinoma, Squamous Cell ; complications ; diagnosis ; surgery ; Diagnosis, Differential ; Humans ; Male ; Pelvic Exenteration ; methods ; Urinary Bladder Neoplasms ; complications ; diagnosis ; surgery

Bladder exstrophy is relatively rare and even more rarely referred for rehabilitation. A nine-year-old girl with congenital bladder exstrophy from Samar presented with an abnormally low umbilicus, an abdominal opening below the umbilicus, and an anteriorly located anus. The patient has had no prior medical consult. She underwent primary repair of the exstrophy, anterior innominate bone osteotomy, application of external fixators, and traction. Postoperatively, the patient was referred for multidisciplinary rehabilitation management. The rehabilitation bladder program consisted of bladder training with clean intermittent catherization, use of voiding diaries, fluid restriction, timed voiding, electrical stimulation, and pelvic floor muscle exercises. Bed sore care, pulmophysiotherapy, and strengthening exercises for lower extremities were also implemented. At present there are no validated guideline in the management of urinary incontinence among female children with pelvic surgery, specifically with bladder exstrophy. This case report aims to present the rehabilitation management of female pediatric patient with delayed bladder exstrophy repair, resulting in improved outcome.

Human ; Female ; Child ; Anal Canal ; Bladder Exstrophy ; Electric Stimulation ; External Fixators ; Lower Extremity ; Osteotomy ; Pelvic Bones ; Pelvic Floor ; Pressure Ulcer ; Traction ; Umbilicus ; Urinary Incontinence

We report here the short-term results of 3 cases of cloacal and bladder exstrophy that underwent complete primary exstrophy repair. One case was diagnosed as bladder exstrophy and the others were diagnosed as cloacal exstrophy. Complete primary exstrophy repair for all 3 cases was carried out within 24 hours after birth. There was no wound dehiscence within the follow-up period of 12 months. The complete primary exstrophy repair with positioning the bladder neck and urethra in the deep pelvic cavity achieves a satisfactory short-term result.
Bladder Exstrophy* ; Cloaca ; Follow-Up Studies ; Neck ; Parturition ; Reconstructive Surgical Procedures ; Urethra ; Urinary Bladder* ; Wounds and Injuries

Bladder exstrophy is a rare congenital malformation in which the anterior wall of the bladder is absent, and the posterior wall is exposed. Because of the poor prognosis, prenatal diagnosis is important. We present a case of bladder exstophy which was presented as a solid mass in the lower part of the fetal abdomen instead of fluid-filled urinary bladder, and confirmed at autopsy after termination of pregnancy. To the best of our knowledge, this is the first report of bladder exstrophy prenatally diagnosed in the Korean literature.
Abdomen ; Autopsy ; Bladder Exstrophy* ; Diagnosis* ; Female ; Fetus ; Humans ; Pregnancy ; Pregnancy Trimester, Second* ; Pregnancy* ; Prenatal Diagnosis ; Prognosis ; Ultrasonography* ; Urinary Bladder* ; Urogenital System

Bladder exstrophy is a rare condition with an incidence of between 1 in 10,000 and 1 in 50,000 live births and the male-to-female ratio ranges 2.3:1 to 6:1. The basic defect of bladder exstrophy is an abnormal overdevelopment of the cloacal membrane, preventing medial migration of the mesenchymal tissue and proper lower abdominal wall development. Although there are some recent successful reports of the one-stage repair of bladder exstrophy that involves complete primary repair of exstrophy and total disassembly of the epispadiac penis, staged repair still represents the most common operation for correction of this anomaly. A successful initial closure of the infant born with bladder exstrophy is the single most important determinant of continence in the staged repair of exstrophy patient. We report a case of bladder exstrophy with successful initial closure of bladder using posterior iliac osteotomy and paraexstrophy skin flap.
Abdominal Wall ; Bladder Exstrophy* ; Humans ; Incidence ; Infant ; Live Birth ; Male ; Membranes ; Osteotomy ; Penis ; Skin ; Urinary Bladder*

Omphalocele-exstrophy-imperforate anus-spinal defects(OEIS Syndrome) is a single defect in early mesoderm, and its incidence is about one in 250,000. If was first described by Littre in 1709. The characteristics of this disorder is omphalocele, extrpohy of bladder, imperforate anus and spina bifida. There have been reports of longtime survival made possible by several operations, but for most cases normal life is impossible due to the deformities. We report a case of OEIS complex who had omphalocele, exstrophy of bladder, imperforate anus and spina bifida from birth.
Anus, Imperforate ; Bladder Exstrophy ; Congenital Abnormalities ; Hernia, Umbilical ; Incidence ; Mesoderm ; Parturition ; Spinal Dysraphism ; Urinary Bladder

Omphalocele-exstrophy-imperforate anus-spinal defects(OEIS Syndrome) is a single defect in early mesoderm, and its incidence is about one in 250,000. If was first described by Littre in 1709. The characteristics of this disorder is omphalocele, extrpohy of bladder, imperforate anus and spina bifida. There have been reports of longtime survival made possible by several operations, but for most cases normal life is impossible due to the deformities. We report a case of OEIS complex who had omphalocele, exstrophy of bladder, imperforate anus and spina bifida from birth.
Anus, Imperforate ; Bladder Exstrophy ; Congenital Abnormalities ; Hernia, Umbilical ; Incidence ; Mesoderm ; Parturition ; Spinal Dysraphism ; Urinary Bladder