Amniotic Fluid Abnormalities
Tony Hollingworth in Differential Diagnosis in Obstetrics and Gynaecology: An A-Z, 2015
Congenital abnormalities and fetal aneuploidy are commonly associated with oligohydramnios seen in the second trimester. The majority of fetal anomalies involve the genitourinary system, but skeletal, central nervous system and cardiovascular defects are also seen in association with oligohydramnios. It is important to remember that oligohydramnios secondary to renal anomalies may not be evident until 18 weeks’ gestation, as the maternal contribution of amniotic fluid remains high until 14–18 weeks. Comprehensive fetal morphology ultrasound assessment is required particularly of the fetal kidneys and bladder. Renal agenesis, bladder outlet obstruction, multicystic dysplastic kidneys, and infantile polycystic kidneys can usually be accurately diagnosed by transabdominal ultrasound. Renal agenesis can be confirmed by the inability to locate kidneys bilaterally and the absence of fluid in the fetal bladder. Further evaluation for renal agenesis includes the use of colour Doppler to locate the bilateral renal arteries and the appearance of ‘lying down’ adrenal glands. Multicystic dysplastic kidneys and infantile polycystic kidneys will demonstrate bilaterally enlarged hyperechoic or cystic kidneys. Bladder outlet obstruction associated with posterior urethral valve syndrome will demonstrate an enlarged bladder with a ‘keyhole’ appearance and significant renal pelvic dilatation. Secondary to the severe olig-ohydramnios, definitive antenatal diagnosis of these fetal conditions via transabdominal ultrasound may at times be difficult.
Embryology
Anthony R. Mundy, John M. Fitzpatrick, David E. Neal, Nicholas J. R. George in The Scientific Basis of Urology, 2010
For convenience, congenital anomalies of the kidney and urinary tract (CAKUT) can be arbitrarily grouped in the following broad morphological categories: Renal agenesis—total absence of the kidneyRenal dysplasia—a kidney is present, although it is often reduced in size. The internal architecture is disordered and the histological appearances are characterized by immature, primitive, “undifferentiated’’ tubules, and the inappropriate presence of tissues such as cartilage and fibromuscular tissue within the renal parenchymaCyst formationGross developmental anomalies, such as duplication, horseshoe kidney, and pelvic kidney
Practice Paper 5: Answers
Anthony B. Starr, Hiruni Jayasena, David Capewell, Saran Shantikumar in Get ahead! Medicine, 2016
Bilateral renal agenesis is a condition that is not compatible with life and usually results in stillbirth or death in the early neonatal period. Women carrying a fetus with bilateral renal agenesis have low amounts of amniotic fluid (oligohydramnios). This is because the fetal kidneys and urogenital tract are essential for the production of amniotic fluid, which protects the fetus from trauma in utero. Bilateral renal agenesis is one of the causes of Potter’s syndrome. Potter’s syndrome occurs when severe oligohydramnios results in facial deformities, epicanthic folds, low-set ears, pulmonary hypoplasia and joint deformities. Other causes of Potter’s syndrome include ARPKD and congenital obstructive uropathy.
The feasibility of one-stage flexible ureteroscopy lithotripsy in solitary kidney patients with 1–3 cm renal stones and risk factors of renal function changes
Published in Renal Failure, 2021
Yang Pan, Han Chen, Hualin Chen, Xiaoxiang Jin, Yunxiao Zhu, Gang Chen
In total, 76 solitary kidney patients with 10–30 mm renal stones, who were managed by f-URS, were included in our study. There were 40 and 36 patients in the PS and NPS group, respectively. The age ranged from 29 to 80 years, and 56.6% of all patients were male. The mean body mass index (BMI) was 24.3 ± 3.7 kg/m2. The greatest stone diameter was ranging from 10.0 to 28.4 mm and the average value was 16.8 ± 4.7 mm. The left and right side of renal stones were found in 36 cases and 40 cases, respectively. Twenty-six patients had previous contralateral nephrectomy history due to renal cell carcinoma (n = 15), renal pelvis carcinoma (n = 3), ureteral urothelial carcinoma (n = 4), severe purulent kidney (n = 1), tuberculosis of kidney (n = 2), and renal rupture hemorrhage (n = 1). Four cases had congenital renal agenesis and 46 patients were diagnosed with contralateral nonfunctional kidney.
Clinical Presentations and Diagnostic Imaging of VACTERL Association
Published in Fetal and Pediatric Pathology, 2023
Gabriele Tonni, Çağla Koçak, Gianpaolo Grisolia, Giuseppe Rizzo, Edward Araujo Júnior, Heron Werner, Rodrigo Ruano, Waldo Sepulveda, Maria Paola Bonasoni, Mario Lituania
Renal anomalies occur in approximately 50-80% of patients with VACTERL association [32,33]. The renal abnormality spectrum ranges from renal agenesis to horseshoe kidney and MCDKD, which may be also associated with limb defects such as oligodactyly of the foot [50] (Figures 11 and 12), and crossed renal ectopia may be seen (Figures 13 and 14). In some studies, the most common renal manifestation seen in patients with VACTERL association is renal agenesis [51,52] (Figures 15 and 16). In a cohort study conducted by Cunningham et al. [53], vesicoureteral reflux (VUR) in addition to a structural defect was the most common renal anomaly, followed by renal agenesis. Stenosis of the urethra with an enlarged bladder, resembling lower urinary tract obstruction, can also be observed [54]. Urinary anomalies represent a series of diseases capable of causing major morbidity, some of which can be life-threatening. These anomalies often go unrecognized or overlooked, affecting the child’s growth and the future chance of transplant success [55]. In the postnatal period, examination with a voiding cystourethrogram may be required in cases with VUR [5]. Renal agenesis can be diagnosed using US and/or MRI. Renal agenesis and renal artery absence, hypertrophy of the contralateral kidney on US, and MRI with the ipsilateral adrenal gland “lying-down” in the pelvis are recognized MRI diagnostic clusters [56].
A case report of first hearing loss, then painful menarche: a young girl with Herlyn–Werner–Wunderlich syndrome (OHVIRA syndrome) and concomitant inner ear anomalies
Published in Journal of Obstetrics and Gynaecology, 2021
Ayşe Ö. Balık, Buket Yağcı, Murat Özoğul, Fisun Vural
Approximately, 10% of all Mullerian ducts anomalies are caused by HWWS (Cox and Ching 2012). The Mullerian canals move towards the midline and then fuse to create uterus, cervix and upper part of the vagina in the eighth to ninth week of embryogenesis. In the case of when the mesonephric duct is absent, the Mullerian duct is displaced laterally and cannot fuse with the contralateral duct, resulting in a didelphic uterus. The contralateral Mullerian duct gives rise to the vagina, whereas the displaced Mullerian duct that cannot come into contact with the urogenital sinus centrally forms a blind sac, leading to an imperforate or obstructed hemivagina. Ipsilateral renal agenesis is the part of the syndrome. Therefore, mesonephric duct evolution anomalies may be the reason for unilateral renal agenesis with imperforate hemivagina (Zhou et al. 2014).
Related Knowledge Centers
- Infertility
- Oligohydramnios
- Paramesonephric Duct
- Kidney
- Ret Proto-Oncogene
- Gestation
- Potter Sequence
- Genetic Disorder
- Hematocolpos
- Caesarean Section