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Renal and urinary tract diseases
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The estimates of the recurrence risk in sibs range from 3% to 8% for bilateral renal agenesis, which may have associated congenital abnormalities. There may be some additional risk for unilateral agenesis (often undetected without ultrasound). See the previous section, ‘Multicystic Dysplastic Kidney Disease (Renal Hypo-/Dysplasia)’. Whereas that condition is caused by heterozygous variants in any of several genes, ‘pure’ renal agenesis may sometimes result from homozygous variants at a different locus.
Section 2
Published in Padmanabhan Ramnarayan, MCQs in Paediatrics for the MRCPCH, Part 1, 2017
Fetal ultrasound diagnosis of renal tract anomalies has reached sophisticated levels and the natural history of such abnormalities is only now being elucidated. Causes for a dilated renal collecting system in the foetus include foetal vesico-ureteric reflux, pelvi-ureteric junction obstruction and even a normal variant. Definitions of a dilated renal pelvis include AP diameter > 5 mm at 20 weeks and > 7mm at 32 weeks (controversy exists regarding this). A multicystic dysplastic kidney is one with virtually poor function and dilated collecting systems in the form of cysts.
Management of antenatal hydronephrosis
Published in Prem Puri, Newborn Surgery, 2017
A multicystic dysplastic kidney is composed of multiple noncommunicating cysts of varying sizes with a stromal component that is composed of dysplastic elements. These kidneys do not function. Although multicystic kidney is the most common cause of an abdominal mass in neonates, the vast majority of multicystic kidneys are detected by prenatal sonography. Some clinicians incorrectly assume that multicystic kidney and polycystic kidney are synonymous terms. Polycystic kidney disease is an inherited disorder and has an “adult form” (autosomal dominant) and an “infantile form” (autosomal recessive) and affects both kidneys. In contrast, a multicystic kidney is almost always unilateral and is usually not an inherited disorder. Sonography of multicystic kidneys is often diagnostic, demonstrating multiple echolucent cysts of varying sizes with no discernible cortex (Figure 100.6). Occasionally, the cysts may resemble a severe UPJ obstruction with minimal parenchyma, termed the “hydronephrotic variant.” The contralateral kidney is abnormal in 5%–10% of cases. Renal scintigraphy (MAG-3 or DMSA [dimercaptosuccinic acid] scan) shows nonfunction, but with current US techniques generally is unnecessary for confirmation.46 On occasion, there is a segmental multicystic kidney, in which there is a complete duplication anomaly of the upper urinary tract, with the upper pole being multicystic.47 Many also recommend obtaining a VCUG, because as many as 15% have contralateral VUR,48 but currently it seems unnecessary unless there is contralateral hydronephrosis.49
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
In 1996, a study carried out by Damian et al. [3] was the first to demonstrate a molecular basis for VACTERL association, consisting of a mitochondrial cytopathy characterized by an A-G point mutation at nucleotide position 3243 of mitochondrial (mt) DNA. This mtDNA mutation was discovered in 100% of the renal tissue in a female infant who died at 1 month as a consequence of multicystic dysplastic kidney disease (MCDKD) associated with renal failure. The Sonic hedgehog (Shh) gene programs the development and differentiation of target cells of the growing embryo in a concentration-dependent manner. As a morphogen, it helps orchestrate precise temporal and spatial events during embryogenesis. Specifically, in the absence of an Shh signal, GLI2 and GLI3 act as suppressors, while in the presence of an Shh signal GLI2 and GLI3 are activators of Shh on targeted genes. Defective Shh signaling causes multiple developmental anomalies in the murine model similar to those of VACTERL association [4]. The findings of familial cases and chromosomal abnormalities are considered nonrandom interactions, and therefore VACTERL is considered an association [5,6]. Human candidate gene sequencing has identified TRAP1 and ZIC3 as causative genes for VATER/VACTERL phenotypes and isolated anorectal malformation [7,8]. FOXF1 may also be involved, but without a significant key role [9]. In the case of congenital anomalies of the kidneys and urinary tract (CAKUT), especially presenting a wide range of renal anomalies, pathogenic variants have been identified in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11 [10].
Prenatal sonographic findings in a cohort of foetuses with a confirmed 22q11.2 microdeletion at a single Chinese Tertiary Centre
Published in Journal of Obstetrics and Gynaecology, 2022
Xiang-Yi Jing, Yong-Ling Zhang, Li Zhen, Yan-Lin Li, Dong-Zhi Li
For extracardiac anomalies, multicystic dysplastic kidney and clubfoot were the two most common findings in our series. In postnatal cases, genitourinary tract abnormalities have been reported to be present in 30–40% of del22q11.2 patients, and findings of hydronephrosis, unilateral renal agenesis, and multicystic dysplastic kidney occur at higher rates than expected in the general population (Van Batavia et al. 2019). Clubfoot was the only skeletal system anomaly identified in our series, and was found in 5 cases and as a single finding in 2 cases. One study reported with 1,466 patients that the prevalence of clubfoot in del22q11.2 is 30 times higher than that observed in the general population, and suggested that the diagnosis of clubfoot, especially in combination with other typically associated abnormalities of 22q11.2DS, should provoke consideration of this condition as an underlying diagnosis (Homans 2018).
Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS
Published in Fetal and Pediatric Pathology, 2021
Christoph Dracopoulos, Michael Gembicki, Jann Lennard Scharf, Amrei Welp, Nadine Berg, Jan Weichert
A 20-year-old primigravida was referred to our US unit at 19 + 2 weeks of pregnancy for a targeted ultrasound due to bilateral ventricular enlargement. The mother was underweight with a prepregnancy BMI of <15 kg/m2 and a present BMI of still <18 kg/m2, apart from this both parents were healthy and phenotypically normal. Consanguinity was excluded. The family history was unremarkable, and the mother had no regular medication. Exposure to known teratogenic substances or noxious agents was not recalled. The detailed anatomic survey confirmed massively enlarged lateral and 3rd ventricles, fenestrated cavum septi pellucidi and enlarged foramina of Monro resembling a nonsymmetrical, non-communicating (occlusive) hydrocephalus (Fig. 1). Sagittal and coronal views revealed that the residual cortex was thinned; the corpus callosum was present but also thinned and elevated, while the cerebellum was unusually shaped and slightly descended in the posterior fossa (Fig. 2). The most likely underlying cause of the hydrocephalus was a skin-covered meningocele spanning the region from vertebra C5 to Th1 of the lower cervical and upper thoracic spine respectively (Fig. 3). Three-dimensional imaging of the spine clearly depicted the spinal defect with abnormal deviation of the vertebral arches as seen in the coronal view (Fig. 4). In addition to the central nervous system (CNS) abnormalities the female fetus had a unilateral multicystic dysplastic kidney (MCDK) on the left side (Fig. 5) with typical non-communicating cysts within the renal cortex and reduced blood flow. A thorough multiplanar 3 D evaluation of the pelvic structures could not exclude a Mullerian duct anomaly with certainty. The prenatal findings led to the suspicion of two possible differential diagnoses: MURCS association with concomitant hydrocephalus or VACTERL-H association. At the parents’ request, the pregnancy was terminated at 19 + 4 weeks of pregnancy after interdisciplinary counseling. Prenatal findings were then correlated with the fetopsy for the final diagnosis.