Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry.

BACKGROUND: As outcome data for prune belly syndrome (PBS) complicated by end-stage renal disease are scarce, we analyzed characteristics and outcomes of children with PBS using the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant Association (ESPN/ERA-EDTA) Registry data. METHODS: Data were available for 88 male PBS patients aged <20 years who started renal replacement therapy (RRT) between 1990 and 2013 in 35 European countries. Patient characteristics, survival, and transplantation outcomes were compared with those of male patients requiring RRT due to congenital obstructive uropathy (COU) and renal hypoplasia or dysplasia (RHD). RESULTS: Median age at onset of RRT in PBS was lower [7.0; interquartile range (IQR) 0.9-12.2 years] than in COU (9.6; IQR: 3.0-14.1 years) and RHD (9.4; IQR: 2.7-14.2 years). Unadjusted 10-year patient survival was 85% for PBS, 94% for COU, and 91% for RHD. After adjustment for country, period, and age, PBS mortality was similar to that of RHD but higher compared with COU [hazard ratio (HR) 1.96, 95% confidence interval (CI) 1.03-3.74]. Seventy-four PBS patients (84%) received a first kidney transplant after a median time on dialysis of 8.4 (IQR 0.0-21.1) months. Outcomes with respect to time on dialysis before transplantation, chance of receiving a first transplant within 2 years after commencing RRT, and death-censored, adjusted risk of graft loss were similar for all groups. CONCLUSIONS: This study in the largest cohort of male patients with PBS receiving RRT to date demonstrates that outcomes are comparable with other congenital anomalies of the kidney and urinary tract, except for a slightly higher mortality risk compared with patients with COU.

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.

Prune belly syndrome and associated malformations. A 13-year experience from a developing country

A retrospective investigation was conducted to describe clinical features and birth outcomes among babies with prune belly syndrome detected ante-natally and at birth at the University Teaching Hospital in Cameroon. A total of 11 cases were identified over a period of 13 years, and the majority of affected fetuses were male (10 of 11). Most of the mothers were less than 30 years of age, had singleton pregnancies, and about two-thirds were complicated by placenta praevia, genital infections, preeclampsia, and anaemia associated with hookworm infestations. The most prominent findings related to prune belly syndrome among our patients were clubfoot (45), pulmonary hypoplasia (27), Potter facies (27), imperforate anus (27), and arthrogryposis (18). About two-thirds of the affected pregnancies did not reach the age of viability either due to voluntary termination (three of seven cases) or spontaneous abortion (four of seven cases). Of the remaining four viable pregnancies, two cases each of stillbirth and neonatal death were recorded. Among pregnancies that were not voluntarily terminated (n = 8), multiple concomitant anomalies and bilateral renal lesions were apparently the cause of fetal/infant death in the majority of cases (75). In conclusion, Cameroonian babies with prune belly syndrome presented with clinical features that were comparable to those observed in developed nations

Eagle-Barrett syndrome: occurrence and outcomes.

OBJECTIVE: To examine the occurence and outcomes of African babies born with features of Eagle-Barret syndrome at a tertiary health centre. DESIGN: Case series. SETTING: University Teaching Hospital, Yaounde, Cameroon. SUBJECTS: Patients were identified through a retrospective review of obstetric records of mothers admitted at the centre within the period 1984 to 1996 inclusive. A total of eleven cases were identified over a period of thirteen years. RESULTS: The most prominent associated defects consisted of clubfoot, pulmonary hypoplasia, Potter's facies, imperforate anus and arthrogryposis. None of our patients survived the perinatal period. CONCLUSION: Our study indicates the need for the establishment of a prenatal and cytogenetic infrastructure in Cameroon to enhance early detection of congenital malformation and chromosomal aberrations. In the meantime, early detection of foetuses with Eagle-Barret syndrome using ultrasound could facilitate timely institutions of antenatal management options and lead to favourable birth outcomes of affected babies.

Prune belly syndrome and associated malformations. A 13-year experience from a developing country.

A retrospective investigation was conducted to describe clinical features and birth outcomes among babies with prune belly syndrome detected ante-natally and at birth at the University Teaching Hospital in Cameroon. A total of 11 cases were identified over a period of 13 years, and the majority of affected fetuses were male (10 of 11). Most of the mothers were less than 30 years of age, had singleton pregnancies, and about two-thirds were complicated by placenta praevia, genital infections, preeclampsia, and anaemia associated with hookworm infestations. The most prominent findings related to prune belly syndrome among our patients were clubfoot (45%), pulmonary hypoplasia (27%), Potter facies (27%), imperforate anus (27%), and arthrogryposis (18%). About two-thirds of the affected pregnancies did not reach the age of viability either due to voluntary termination (three of seven cases) or spontaneous abortion (four of seven cases). Of the remaining four viable pregnancies, two cases each of stillbirth and neonatal death were recorded. Among pregnancies that were not voluntarily terminated (n = 8), multiple concomitant anomalies and bilateral renal lesions were apparently the cause of fetal/infant death in the majority of cases (75%). In conclusion, Cameroonian babies with prune belly syndrome presented with clinical features that were comparable to those observed in developed nations.

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.

[Prune belly syndrome--diagnosis and therapeutic possibilities]. / Das Prune-Belly-Syndrom--Diagnostik und therapeutische Möglichkeiten.

The Prune Belly Syndrome combines dilation of the bladder and a laxity of the abdominal wall, and is of unknown etiology. The sequelae are a pulmonary hypoplasia and a deterioration of the kidney function, which determine prognosis. Via early ultrasound diagnosis, intrauterine application of a vesico-amniotic shunt can be performed and can improve survival rates. Inclusion criteria for a vesicoamniotic shunt are a lack of further sonomorphological abnormalities, a lack of an indication for an alteration of the kidney function by ultrasound or laboratory tests, and a normal karyotype.

Long-term results of renal transplantation in children with the prune-belly syndrome.

PURPOSE: We assessed the long-term efficacy of renal transplantation in children with the prune-belly syndrome. MATERIALS AND METHODS: We retrospectively compared the outcomes of renal transplantation in 9 children with the prune-belly syndrome and 100 with malformative uropathy. RESULTS: Graft survival in the prune-belly syndrome and control groups was 50 and 72% at 5 years, and 50 and 47% at 10 years, respectively (not statistically significant). No statistically significant increase in serum creatinine was noted at 10 years in children with the prune-belly syndrome. Two patients with the prune-belly syndrome underwent internal urethrotomy after transplantation. All patients voided well and did not require intermittent catheterization. CONCLUSIONS: Renal transplantation in children with the prune-belly syndrome is not associated with a high rate of failure. However, these patients must be followed with regular urological evaluation since voiding efficiency may deteriorate.

[Prune Belly syndrome. A case of recurrence]. / Syndrome de Prune Belly. A propos d'un cas de récurrence.

Prune belly syndrome is rare. It involves a combination of muscular hypoplasia of the abdominal wall, marked dilatation of the bladder and ureters and, in its most severe form, bilateral testicular ectopia. Fetuses of both sexes may be affected, with a marked predominance of males. The prognosis is poor, with a mortality rate in excess of 50%, due essentially to renal and respiratory complications. The authors evaluate the prognosis of Prune Belly syndrome with regard to a case of recurrence and suggest a modern approach to its management.

The outcome of renal transplantation in children with the prune belly syndrome.

Children with the prune belly syndrome are at high risk for renal failure. The effect of the prune belly syndrome on the outcome of renal transplantation was evaluated in a retrospective study in which 8 transplant recipients with this syndrome were randomly matched with 13 control, nondiabetic transplant patients. The parameters evaluated were patient and graft survival, renal function and interval until transplantation. The patients were matched by computer for age at transplantation, date of transplantation, immunosuppressive therapy used and type of donor. Data were analyzed by the Gehan test. There was no statistically significant difference in patient deaths (1 versus 3), graft survival (75 versus 69%) or graft function between patients with the prune belly syndrome and controls. Patients with the prune belly syndrome waited a shorter interval for transplantation than did controls (no statistically significant difference) because the distensible abdominal wall characteristic of the syndrome permits placement of an adult kidney in a young child. The prune belly syndrome did not adversely affect the outcome of renal transplantation in these patients.

A broader spectrum of abnormalities in the prune belly syndrome.

The clinical course of 25 children with the prune belly syndrome was reviewed retrospectively to assess the over-all morbidity associated with this disorder. There were 3 neonatal deaths of renal or pulmonary disease. Chronic renal insufficiency or end stage renal disease developed in 5 survivors, all of whom had impaired kidney function in early infancy. An additional 17 patients survived with only mild renal insufficiency. Growth retardation, which correlated poorly with renal function, was present in a third of the patients. Clinically significant pulmonary and orthopedic problems were noted in 55 per cent of the survivors. Chronic constipation was another common, although less serious, feature. This report emphasizes the severity of the extrarenal problems associated with the prune belly syndrome.