Familial recurrence of urethral stenosis/atresia

Siebert, Joseph R.; Walker, M.

doi:10.1002/bdra.20594

Cited by 6 publications

(5 citation statements)

References 31 publications

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“…The two theories are not mutually exclusive. In the distension sequence model, impairment of bladder emptying, due to mechanical or functional anomalies, distends the abdominal wall, which in turn leads to hypoplasia/atrophy of the striated muscles of the anterior abdominal wall [Shimada et al, 2000;Siebert and Walker, 2009]. Experimental evidence exists for this mechanical model: ligation of the urethra in lamb fetuses results in renal dysplasia and hypoplasia of the abdominal wall muscles, with a wrinkled appearance of the abdomen [Gonzalez et al, 1990].…”

Section: Introductionmentioning

confidence: 98%

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

Gérard-Blanluet

Port-Lis²,

Baumann

et al. 2010

American J of Med Genetics Pt A

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Prune-belly sequence (PBS) usually results from early urethral obstruction. In rare cases, PBS seems to be due to a faulty primary development of the parietal mesenchyme leading to underdevelopment of the abdominal wall musculature, and disorganization of the smooth muscles in the urinary tract. We report on two patients with segmental, unilateral wall musculature deficiency associated with homolateral agenesis of ribs. One patient also had hemivertebrae and the other one ipsilateral diaphragmatic eventration and aplasia cutis. This combination of anomalies may represent a localized deficiency in the development of somitic mesoderm mesenchyme during early embryogenesis.

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Section: Introductionmentioning

confidence: 98%

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

Gérard-Blanluet

Port-Lis²,

Baumann

et al. 2010

American J of Med Genetics Pt A

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show abstract

“…The two theories are not mutually exclusive. In the distension sequence model, impairment of bladder emptying, due to mechanical or functional anomalies, distends the abdominal wall, which in turn leads to hypoplasia/atrophy of the striated muscles of the anterior abdominal wall [Shimada et al, 2000; Siebert and Walker, 2009]. Experimental evidence exists for this mechanical model: ligation of the urethra in lamb fetuses results in renal dysplasia and hypoplasia of the abdominal wall muscles, with a wrinkled appearance of the abdomen [Gonzalez et al, 1990].…”

Section: Introductionmentioning

confidence: 99%

Modeling analysis of chain transfer in reversible addition‐fragmentation chain transfer polymerization

Gao

Zhu

2011

J of Applied Polymer Sci

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The validity of simplifying the reversible addition-fragmentation chain transfer (RAFT) polymerization as a degenerative chain transfer process was verified in this work. The simplified chain transfer mechanism enabled the direct modeling investigation of chain transfer coefficient in the RAFT polymerization. It also gave the analytical expressions for concentration, chain length, and polydispersity of various chain species. The comparison between the simulations based on chain transfer mechanism and those from general RAFT mechanism showed that this simplified mechanism can accurately predict RAFT polymerization in the absence of side reactions to adduct radicals other than fragmentation. However, significant errors are introduced at high conversion when side reactions to adduct are present. The chain transfer coefficient of RAFT agent is the key factor in RAFT polymerization. The polydispersity is more sensitive to chain transfer coefficient at low conversion. At high conversion, however, the polydispersity is mainly determined by termination, which can be controlled by RAFT agent concentration and the selection of initiator. At last, an analytical equation is derived to directly estimate chain transfer coefficient of RAFT agent from the experimental data.

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“…This case represents a rare situation in which fetal urethral stenosis was suspected because of familial history, and was confirmed by fetal cystoscopy. It is rare that there is a family history of the condition in fetuses with lower urinary tract obstruction (LUTO), although Siebert et al 5 reported a case of familial recurrence of urethral stenosis/atresia. In our case familial history led us to anticipate a potential situation of fetal urethral stenosis and to plan for the possibility of placing a transurethral stent.…”

Section: Discussionmentioning

confidence: 99%

Cystoscopic placement of transurethral stent in a fetus with urethral stenosis

Ruano

Yoshizaki

Giron

et al. 2014

Ultrasound in Obstet & Gyne

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CASE REPORTA 26-year-old woman, gravida 2 para 1, was referred to our Fetal Center at 18 weeks' gestation because of the diagnosis of fetal megabladder at 16 weeks' gestation. Ultrasound examination confirmed a severe megabladder, displaying the 'keyhole' sign and increased wall thickness (Figure 1), associated with mild bilateral hydronephrosis (Grignon Grade II 1 ) and mildly hyperechoic kidneys. No other associated anomaly was seen, but the amniotic fluid volume was reduced (amniotic fluid index (AFI) = 5.1 cm). Fetal echocardiographic findings were normal. Interestingly, family history revealed that the father, brother and uncle of the fetus were diagnosed with urethral stenosis during childhood (without perinatal manifestation). Amniocentesis for fetal karyotyping was performed, with the karyotype confirmed as 46,XY. Fetal ultrasound examination and vesicocentesis were performed weekly. Urinary biochemistry did not indicate At 22 weeks' gestation, bilateral hydronephrosis and echogenicity of the kidneys worsened (Grignon Grade III 1 ). In addition, a further reduced volume of amniotic fluid was noted (AFI = 4.0 cm). After extensive counseling by pediatric and urologic specialists, the parents elected to proceed with percutaneous fetal antegrade cystoscopy and possible laser fulguration of the posterior urethral valves. Fetal cystoscopy was performed under maternal epidural anesthesia according to our previously reported protocol 2 -4 . Ultrasound-guided fetal anesthesia was conducted by injecting fentanyl (15 μg/kg) and pancuronium (1.0 mg/kg) into the fetal leg using a 22-gauge needle. A 2.2-curved sheath was introduced percutaneously into the upper part of the fetal bladder. Using a 1.0-mm fetoscope

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Familial recurrence of urethral stenosis/atresia

Abstract: A microdeletion of 6p25.3, identified in mother and one fetus, is not associated with a gene known to be involved in urethral development and therefore of unknown significance.

Cited by 6 publications

References 31 publications

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

Modeling analysis of chain transfer in reversible addition‐fragmentation chain transfer polymerization

Cystoscopic placement of transurethral stent in a fetus with urethral stenosis

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