Prune belly syndrome in Finland - A population-based study on current epidemiology and hospital admissions.

BACKGROUND: Prune belly syndrome (PBS) is a multisystem disease characterized by absent or deficient abdominal musculature with accompanying lax skin, urinary tract abnormalities, and cryptorchidism. Previous studies have estimated a birth prevalence of 1 in 35,000-50,000 live births. OBJECTIVE: We set out to clarify the epidemiology and early hospital admissions of PBS in Finland through a population-based register study. Further, possible maternal risk factors for PBS were analyzed in a case-control setting. STUDY DESIGN: The Finnish Register of Congenital Malformations was linked to the Care Register for Health Care, a population-based hospital admission data for PBS patients. Additionally, five matched controls were identified in the Birth Register and maternal risk factors of PBS were studied utilizing data from the Drugs and Pregnancy database. RESULTS: We identified 31 cases of PBS during 1993-2015, 15 of which were live born and 16 elective terminations. The total prevalence was 1 in 44,000 births. Three patients (20%) died during infancy. On average, PBS-patients had 3.2 admissions and 10.6 hospital days per year in Finland during the study period years 1998-2015, 35- and 27-fold compared to children in Finland in general. Multiple miscarriages were significantly associated to PBS in maternal risk factor analyses. DISCUSSION: The burden of disease is significant in PBS, demonstrated as a high infant mortality rate (20%), multiple hospital admissions, and inpatient care in days. The available variables are limited as a register-based study. CONCLUSION: We present data on contemporary epidemiology in a population-based study and show that the total prevalence of PBS is 1 in 44,000 in Finland. PBS entails a significant disease burden with admissions and hospital days over 35- and 27-fold compared to the general pediatric population, further aggravated by an infant mortality rate of 20%.

Síndrome de Prune Belly: revisión bibliográfica / Brune Belly Syndrome. Literature Review

El Síndrome de Prune-Belly o abdomen en ciruela pasa, es una rara enfermedad congénita de causa desconocida aún sin definir; las características de este síndrome son la triada que involucra: ausencia congénita de la musculatura de la pared abdominal, malformaciones del tracto urinario y criptorquidia bilateral, su incidencia es de 1 caso por cada 29,000-50,000 nacidos vivos(AU)

Prune-Belly or prune abdomen syndrome, is a rare congenital disease of unknown cause still undefined; among the characteristics of this syndrome are the triad that involves: congenital absence of abdominal wallmuscles, malformations of the urinary tract and bilateral cryptorchidism, its incidence is of one case by each 29,000-50, 000 born alive(EU)

De las bases embriológicas a la clínica en el síndrome de Prune Belly / From the embryological basis to the clinical Prune Belly syndrome

El síndrome de Prune Belly es un trastorno congénito, que obedece según lo reportado actualmente a una base genética. Está caracterizado por la siguiente triada: deficiencia en grados variables de la musculatura abdominal, criptorquidia bilateral y anomalías del tracto urinario. Se identifican dos variantes del síndrome, una mortal y otra compatible con la vida(AU)

Prune Belly syndrome is a congenital disorder that is due, as currently reported, to genetic basis. It is characterized by the following triad: deficiency of abdominal muscles in varying degrees, bilateral cryptorchidism and urinary tract anomalies. Two variants of the syndrome are identified, a deadly one and another compatible with life(AU)

PATTERN AND OUTCOME OF RENAL DISEASES IN HOSPITALIZED CHILDREN IN TIKUR ANBESSA SPECIALIZED TEACHING HOSPITAL, ADDIS ABABA, ETHIOPIA.

Background: Renal diseases are major causes of morbidity and mortality in pediatric practice. Pediatric patients with renal disease, especially younger ones may present with nonspecific signs and symptoms unrelated to the urinary tract. Unexplained fever or failure to thrive may be the only manifestation. Most children with renal diseases in our hospital arrive very late either because of inadequate health awareness among the parents or failure of recognizing the symptoms of renal diseases at a lower health care level. This review will highlight the symptoms of renal diseases at presentation and outcomes of treatment in children in a major referral hospital. Methods: A cross-sectional retrospective chart review was done over a period of 3 years (June, 2012 to May, 2015) in 381 admitted children (Birth-17 years) at Tikur Anbessa Specialized Teaching Hospital in Addis Ababa, Ethiopia. Results: Out of 14521 pediatric ward admissions in the study period, kidney diseases accounted for 473 admissions in 381 children, accounting for 3.3% of all admissions. The three most common renal diseases observed were congenital anomalies of the kidney and urinary tract (CAKUT) seen in 127 children (26.8%), followed by nephrotic syndrome in 80 children 16.9% and acute glomerulonephritis in 58 children (12.2%). Other renal diseases observed were urinary tract infection 8.0%, urolithiasis 6.7%, Wilm's tumor 6.3%, acute kidney injury 4.2% and chronic kidney disease 4.0%. Other less frequently detected diseases were bladder exstrophy, lupus nephritis, Henock shonlein Purpura nephritis and prune-belly syndrome. Out of 381 children 207 (54.3%) recovered normal renal function, 20(5.2%) remained with proteinuria, 13(3.4%) progressed to chronic kidney disease and 11(2.9%) died. Sixty one nephrotic children (76.3%) achieved remission but 17 children (21.3%) remained with proteinuria; one steroid resistant child died of end stage renal disease. Ten children (2.6%) with different renal diseases were lost to follow-up and 5 (1.3%) discharged against medical advice. Conclusions: This data reflects that many of the renal diseases are preventable or potentially curable. Therefore, improvement of pediatric renal services and training of health workers would help in early detection and treatment of these conditions leading to reduction in their morbidity and mortality.

Contemporary epidemiological trends in complex congenital genitourinary anomalies.

PURPOSE: Anecdotal evidence suggests that complex congenital genitourinary anomalies are occurring less frequently. However, few epidemiological studies are available to confirm or refute this suggestion. MATERIALS AND METHODS: The Kids' Inpatient Database (KID) is a national, all payer database of several million inpatient pediatric hospitalizations per year, including complicated and uncomplicated in-hospital births. We reviewed the 1997 to 2009 KID to determine the birth prevalence of spina bifida, posterior urethral valves, bladder exstrophy, epispadias, prune belly syndrome, ambiguous genitalia and imperforate anus. For posterior urethral valves and prune belly syndrome we limited our search to newborn males only. RESULTS: During the study period, there was a diagnosis of spina bifida in 3,413 neonates, bladder exstrophy in 214, epispadias in 1,127, ambiguous genitalia in 726, prune belly syndrome in 180, posterior urethral valves in 578 and imperforate anus in 4,040. We identified no significant change in the birth prevalence of spina bifida (from 33.9 new spina bifida births of 100,000 uncomplicated births to 29.0/100,000, p = 0.08), posterior urethral valves (from 10.4/100,000 to 11.0/100,000, p = 0.51), prune belly syndrome (from 4.8/100,000 to 3.3/100,000, p = 0.44) or ambiguous genitalia (from 5.82/100,000 to 5.87/100,000, p = 0.38). There was a significant decrease in the birth prevalence of bladder exstrophy (from 2.4/100,000 to 1.6/100,000 uncomplicated births, p = 0.01) and a significant increase in epispadias (from 8.0/100,000 to 11.6/100,000) and imperforate anus (from 33.6/100,000 to 35.0/100,000, each p = 0.04) during the study period. CONCLUSIONS: The birth prevalence of spina bifida, posterior urethral valves and prune belly syndrome appears to have been stable in the last 12 years. Epispadias, ambiguous genitalia and imperforate anus diagnoses in newborns became more common in the same period, while bladder exstrophy diagnoses became less common.

Prune-belly syndrome: case series and review of the literature regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis.

Prune-belly syndrome (PBS) is a rare congenital syndrome characterized by deficient abdominal muscles, urinary tract malformation, and in males, cryptorchidism and has an estimated incidence of 1 in 35,000 to 1 in 50,000 live births. The syndrome might be due to severe bladder outlet obstruction or to abdominal muscle deficiency secondary to a migrational defect of the lateral mesoblast between weeks 6 and 7 of pregnancy. The current review of the medical record reports a special focus on epidemiology, genetic factors, early prenatal diagnosis clusters, treatment, and prognosis of PBS.

Prune belly syndrome.

The majority of paediatric surgeons will encounter a patient with prune belly syndrome (PBS) only a few times in their clinical practice. There have been many opposing views in the literature regarding the pathogenesis and management of this complex condition. A detailed review was conducted using PubMed to identify key publications involving PBS. This article discusses the evolution of our understanding of the pathogenesis and diagnosis of PBS, including its typical characteristics. We describe the management options available for bilateral intra-abdominal testes, the deficient abdominal wall, the dilated urinary system and examine the evidence base used to support the current approaches employed.

Contemporary epidemiology and characterization of newborn males with prune belly syndrome.

OBJECTIVES: Prune belly syndrome (PBS) is a rare condition characterized by the congenital absence or deficiency of the abdominal wall musculature, with associated abnormalities of the genitourinary tract, including hydronephrosis and cryptorchidism. Few population-based epidemiology or mortality data are available. METHODS: We retrospectively reviewed the Kids' Inpatient Database to evaluate PBS among newborn infants during their initial hospitalization in 2000, 2003, and 2006. The International Classification of Diseases, Ninth Revision, Clinical Modification codes were used to identify patients and to determine the comorbidity status. The PBS incidence, demographics, comorbid conditions, and disposition were assessed. RESULTS: A total of 133 newborn male infants diagnosed with PBS were identified of 1,420,991 live male births, for a weighted incidence estimate of 3.8 cases/100,000 live births. Of the newborns with PBS, 50% were white, 31% black, and 10% were Hispanic. In-hospital mortality was high (39 of 133, 29%). Of the 133 patients with PBS, 55 (41%) were discharged home and 39 (29%) required inpatient transfer or home nursing care. Fifty-seven patients (43%) were born premature; 56% of the PBS deaths occurred in premature infants. Mechanical ventilation was required in 64 newborns (48%), and 33 (24%) had coexisting congenital cardiovascular anomalies. Renal failure was uncommon, occurring in only 5 newborns (4%); none required dialysis. Only 13 patients (10%) underwent urinary diversion (vesicostomy or ureterostomy). CONCLUSIONS: The incidence of PBS was 3.8 cases/100,000 live births. Despite advances in care for children with PBS, this condition continues to be associated with high perinatal mortality, likely related to the associated prematurity and pulmonary complications. Renal failure was rare, as was immediate urinary diversion.

[Prune Belly syndrome: epidemiologic, clinic and therapeutic aspects]. / Syndrome de Prune Belly : aspects épidémiologiques, cliniques et thérapeutiques.

UNLABELLED: Prune Belly syndrome (PBS) is a rare complex malformation with male predominance. His pathogeny is not yet completely elucidated. The goal of this work is to analyze the epidemiological, anatomoclinical and treatment aspects of a retrospective trial in Aristide-Le-Dantec Hospital. PATIENTS AND METHODS: We carried out a retrospective study about 22 cases collected in the departments of urology-andrology and pediatric surgery in Aristide-Le-Dantec Hospital between April 1995 and November 2004. RESULTS: The mean age of the patients was 15 months with extremes of one day and 10 years. The somatic examination revealed 20 cases of complete abdominal muscle aplasia, one right partial form and the last case had a left partial form. Nineteen patients were managed with conservative treatment and three patients benefited a surgical act for urinary abnormalities. The Montfort intervention was performed in two patients respectively aged eight and 10 years. The orchidopexy, stage 1, by Fowler-Stephens technique was performed in 13 cases. Five cases of death and nine cases of testicular atrophy after orchidopexy occurred. The followings were satisfactory in the three operated patients for urinary abnormalities. CONCLUSION: The renal failure is the main cause of death. The management of the urinary tract abnormalities must be performed individually. The testis descending should be performed in newborn period to enhance the fertility chances. The abdominoplasty also should be done early for aesthetic reason and to improve pulmonary, defecation, and voiding functions.

Prune-belly syndrome in two children and review of the literature.

Prune-belly syndrome is a congenital disorder characterized by abdominal wall musculature deficiency, urinary tract anomalies, and bilateral cryptorchidism. Because of the defect in the musculature, the abdominal skin has a peculiar wrinkled appearance. The syndrome is commonly associated with pulmonary, skeletal, cardiac, and gastrointestinal defects. Developmental delays and growth retardation have also been reported. The incidence of prune belly syndrome is approximately 1:40,000 live births. Over 95% of patients are men. Urinary tract disease is the major prognostic factor, with the complications of pulmonary hypoplasia and end stage renal disease resulting in a mortality rate of 60%. Treatment involves surgical correction of the abdominal wall defect and urinary tract abnormalities, early orchiopexy, and supportive management of associated defects.

Single vaginal ectopic ureter and renal hypoplasia associated with urogenital sinus and abdominal muscular hypoplasia-a novel subtype of prune-belly syndrome in a female child?

We report a rare case that can be classified as prune-belly syndrome in a female. This patient came to our attention during the 19th week of gestation when massive ascites was found by ultrasound and the mother was transferred to our hospital. After birth, it was demonstrated that the infant had complicated anomalies, including abdominal muscular hypoplasia, urogenital sinus, a single, right-sided vaginal ectopic ureter, and hypoplasia of the right kidney. A sibling had a right hypoplastic kidney and right vesicoureteral reflux. Considering the combination of anomalies and the family history of urinary tract disease, her anomalies could be attributed to a genetic mutation.

Sindrome de Prune Belly: presentación de un caso. Consideraciones sobre diagnóstico ultrasónico y tratamiento / Prune-Belly Syndrome: a case report

Frecuencia: Uno en 50.000 nacimientos. Principales manifestaciones: Agenesia o Atresia de musculatura abdominal; Agenesia o Atresia de uretra; Megavejiga. Etiología: Algunos autores consideran una consecuencia de un defecto mesodérmico primario. Caso clínico: Controles obstétricos normales hasta la semana 16, con diagnóstico ecográfico de Megavejiga. Se realizan punciones con evacuación de orina fetal. Se realiza estudio cromosómico y bioquímico. Consideraciones terapéuticas: 1) Punciones con evacuación de orina para disminuir la presión retrógada del tracto urinario; 2) Derivación de vejiga a líquido amniótico, que trata además el oligoamnios y mejora el desarrollo pulmonar; 3) Corregir las alteraciones morfológicas. Conclusiones: Formar un equipo médico interdisciplinario. Informar a los padres y prevenir que a pesar del tratamiento puede ocurrir fallo renal o pulmonar irreversible. Importancia del diagnóstico ultrasónico precoz. (AU)

Sindrome de Prune Belly: presentación de un caso. Consideraciones sobre diagnóstico ultrasónico y tratamiento / Prune-Belly Syndrome: a case report

Frecuencia: Uno en 50.000 nacimientos. Principales manifestaciones: Agenesia o Atresia de musculatura abdominal; Agenesia o Atresia de uretra; Megavejiga. Etiología: Algunos autores consideran una consecuencia de un defecto mesodérmico primario. Caso clínico: Controles obstétricos normales hasta la semana 16, con diagnóstico ecográfico de Megavejiga. Se realizan punciones con evacuación de orina fetal. Se realiza estudio cromosómico y bioquímico. Consideraciones terapéuticas: 1) Punciones con evacuación de orina para disminuir la presión retrógada del tracto urinario; 2) Derivación de vejiga a líquido amniótico, que trata además el oligoamnios y mejora el desarrollo pulmonar; 3) Corregir las alteraciones morfológicas. Conclusiones: Formar un equipo médico interdisciplinario. Informar a los padres y prevenir que a pesar del tratamiento puede ocurrir fallo renal o pulmonar irreversible. Importancia del diagnóstico ultrasónico precoz.

Midline congenital anomalies: the estimated occurrence among American Indian and Alaska Native infants.

While congenital anomalies have been identified as the second leading cause of infant mortality among American Indians and Alaska Natives, limited information exists concerning the morbidity of such malformations. This study was undertaken to address this concern. Using data from the national hospital discharge database of the Indian Health Service, for the years 1980-1988, morbidity rates of seven, relatively common and easily identifiable midline malformations among liveborn infants in this minority population were estimated. The seven congenital anomalies and the estimated rates per 10000 births were: neural tube defects 8.09; oral clefts 29.03; abdominal wall defects 2.99; tracheoesophageal fistula 1.86; conotruncal heart defects 5.90; rectal atresia 3.15; and diaphragmatic hernia 3.24. Seven cases (1.1%) had two midline defects reported.

A descriptive study of prune belly in New York State, 1983 to 1989.

OBJECTIVE: To determine the prevalence and spectrum of prune belly in a defined population. DESIGN: Population-based descriptive study using New York State's Congenital Malformations Registry. SETTING: The Congenital Malformations Registry is a statewide registry of children diagnosed as having congenital anomalies before the age of 2 years. PATIENTS: Infants with the diagnosis of prune-belly syndrome born during the years 1983 to 1989 to women who were New York State residents and verified by medical record review. MAIN OUTCOME MEASURES: The live birth prevalence of prune belly for the total population and for population subgroups, such as race, sex, plurality, and maternal age. The occurrence of other malformations with prune belly. RESULTS: Sixty cases of prune belly were ascertained (50 male and 10 female). The live birth prevalence was 3.2 per 100,000 and declined over the time period. The prevalence was higher in males, 5.1 per 100,000, than females, 1.1; and higher in blacks, 5.8, than whites, 2.6. The live birth prevalence of prune belly in twins, 12.2 per 100,000, was four times higher than that found in singletons, 3.0. More than 36 (60%) of patients died, most in the first week. Forty-two (70%) of patients had one of the commonly described associated defects; pulmonary hypoplasia was the most common. Almost one third of patients had defects other than those typically associated with prune belly. CONCLUSIONS: Twins, blacks, and children born to younger mothers appear to be at higher risk. Mortality remains high, especially early with many deaths due to pulmonary hypoplasia. Further studies should include stillborns and terminated pregnancies.

Musculoskeletal aspects of prune-belly syndrome. Description and pathogenesis.

OBJECTIVE: To determine the types and prevalence of musculoskeletal involvement in children with prune-belly syndrome, and to analyze the pathogenesis of the syndrome in relationship to the musculoskeletal deformities. DESIGN: A retrospective review of charts and roentgenograms along with a comprehensive review of 188 cases from the literature. SETTING: Tertiary care children's hospital. PARTICIPANTS: Twelve boys treated between 1975 and 1990. MEASUREMENTS/MAIN RESULTS: The prevalence of musculoskeletal involvement in patients was 45%. The involvement can be congenital (eg, clubfeet, limb deficiencies, teratologic hip dysplasia, and vertebral malformations) or developmental (eg, renal osteodystrophy, scoliosis, and pectus excavatum and/or pectus carinatum). The embryologic characteristics of congenital musculoskeletal problems correlate better with the embryologic theory of the prune-belly syndrome (an aberration of mesenchymal development around 6 weeks of gestation) than with the distal urinary tract obstructive theory. CONCLUSION: Since children with prune-belly syndrome are now living into adulthood, these musculoskeletal aspects will become important regarding potential morbidity.

[Prune belly syndrome. Necropsy study of 2 cases]. / Síndrome de Prune Belly. Estudio necrópsico de dos casos.

The authors report two cases of Prune Belly syndrome (female and male newborn) with urethral obstruction and other associated malformations: imperforate anus, vaginal septae and bicornuate uterus in the female case; unilateral anorchia and hyaline membrane disease in the male. These findings support the mechanical pathogenic theory. In the cytogenetic studies no chromosomal abnormalities were detected. Both karyotypes were normal.