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Bilateral Renal Agenesis

Potter Syndrome


Presentation

Dysostosis
  • We report a female fetus with a previously undescribed form of mandibulofacial dysostosis with mesomelic limb abnormalities, pre- and post-axial defects of the hands, bilateral renal agenesis, bicornuate uterus, and a single umbilical artery.[ncbi.nlm.nih.gov]
  • […] genital malformations (Mullerian anomalies) ( 2669483 ) uterine malfomations (bicornuate uterus) vaginal malformations male genital malformations epididymal malformations vas deferens malformations caudal regression syndrome sirenomelia lethal acrofacial dysostosis[humpath.com]
Disturbance of Growth
  • The alveoli in each acinus were reduced in size and, in some cases, number--although their stage of differentiation was normal for age--pointing to a disturbance of growth during later fetal life also.[ncbi.nlm.nih.gov]
Beaked Nose
  • The face usually consists of wide-set eyes; a “parrot beaknose; a receding chin, and large low set ears deficient in cartilage.[rarediseases.org]
  • The characteristic features of the infants described as Potter’s facies include: redundant and dehydrated skin, wide set eyes, prominent fold arising at the inner canthus of each eye, parrot beak nose, receding chin, large low set ears with deficient[drberman.org]
Short Neck
  • At delivery, the proband displayed dysmorphic features of hypertelorism, a prominent glabella, epicanthic fold, a stubby nose with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low-set ears, a short neck and a distended abdomen.[ncbi.nlm.nih.gov]
Thin Lips
  • At delivery, the proband displayed dysmorphic features of hypertelorism, a prominent glabella, epicanthic fold, a stubby nose with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low-set ears, a short neck and a distended abdomen.[ncbi.nlm.nih.gov]

Workup

Liver Biopsy
  • METHODS: We have identified 14 additional fetuses with bilateral renal agenesis from autopsies performed in our institution over the past 10 years and subjected archival liver biopsy specimens from these cases to immunohistochemistry for WT1, as well[ncbi.nlm.nih.gov]

Treatment

  • Serial amnioinfusion therefore should not be offered as treatment, but only as approved innovation or research.[ncbi.nlm.nih.gov]
  • […] of Prostate Cancer 541 Treatment of Locally Advanced Prostate Cancer 542 Clinical State of the Rising PSA Value after Definitive Local Therapy 544 Hormone Therapy for Prostate Cancer 547 Treatment of CastrationResistant Prostate Cancer 551 Normal Development[books.google.com]
  • The document includes information about: what the condition is how common it is how it is diagnosed and confirmed what treatment is available what the outlook for the baby is what happens next how likely it is to happen in future pregnancy where more[gov.uk]
  • Care and Treatment You should discuss your plans for labor and delivery with your obstetrician.[ohiofetalmedicine.org]
  • But the baby will need regular dialysis treatment and a future kidney transplant because she has no kidneys.[abcnews.go.com]

Prognosis

  • What is the Prognosis of Bilateral Renal Agenesis? (Outcomes/Resolutions) The prognosis of Bilateral Renal Agenesis is very poor; neonatal deaths are unavoidable.[dovemed.com]
  • Absence of both kidneys since birth has very poor prognosis. The neonate dies few hours after birth.[tandurust.com]
  • Prognosis, survival, and quality of life. Bilateral renal agenesis is always lethal, due to the associated severe pulmonary hypoplasia.[panoramascan.com]
  • Prognosis In the absence of kidney injury or disease, the prognosis for unilateral renal agenesis is excellent. Individuals with unilateral renal agenesis usually lead normal, healthy lives.[encyclopedia.com]
  • Treatment and prognosis Most individuals with unilateral renal agenesis lead normal lives although there is an increased risk of renal infections, nephrolithiasis, hypertension and/or renal failure. No specific treatment is necessary.[radiopaedia.org]

Etiology

  • Abstract Renal agenesis/adysplasia is the leading etiology of end stage renal disease in children. The etiology for renal agenesis/adysplasia has not been identified.[ncbi.nlm.nih.gov]
  • Epidemiology and Natural History 482 Evaluation and Nonsurgical Management of Benign Prostatic Hyperplasia 486 Minimally Invasive and Endoscopic Management of Benign Prostatic Hyperplasia 493 Retropubic and Suprapubic Open Prostatectomy 496 Epidemiology Etiology[books.google.com]

Epidemiology

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • Epidemiology of Potter's syndrome: Incidence: 3–15/100.000 births for bilateral renal agenesis, 3–20/100.000 births for bilateral renal dysgenesia. In 75%, boys are affected.[urology-textbook.com]
  • Interpretation of recurring weak associations obtained from epidemiologic studies of suspected human teratogens , Teratology , 1992 , vol. 46 1 (pg. 69 - 77 ) American Journal of Epidemiology The Author 2008.[academic.oup.com]
  • Epidemiology Frequency United States Potter syndrome is mostly associated with obstruction of the urinary tract or severe bilateral renal hypoplasia.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Cutaneous Continent Urinary Diversion 459 Orthotopic Urinary Diversion 465 Genital and Lower Urinary Tract Trauma 468 Lower Urinary Tract Calculi 471 Development Molecular Biology and Physiology of the Prostate 476 Benign Prostatic Hyperplasia Etiology Pathophysiology[books.google.com]
  • Pathophysiology Prior to 16 weeks' gestations, the amount of amniotic fluid is dependent on the transmembrane flow. After that, fetal urine production is the predominant mechanism that determines the amniotic fluid volume.[emedicine.medscape.com]
  • Interpreting these results is complicated because many of these studies group together multiple renal and urologic birth defects that likely develop from different pathophysiologic mechanisms ( 8 , 12–14 , 24 ).[academic.oup.com]

Prevention

  • They emphasize that nowadays the birth of a newborn with bilateral renal agenesis can be prevented in all cases.[ncbi.nlm.nih.gov]
  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • MATERIALS AND METHODS Data for this analysis are from the National Birth Defects Prevention Study, a case-control study sponsored by the Centers for Disease Control and Prevention.[academic.oup.com]

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