Congenital anomalies of the kidney and urinary tract (CAKUT) associated with Hirschsprung’s disease: a systematic review

Hofmann, Alejandro D.; Duess, Johannes W.; Puri, Prem

doi:10.1007/s00383-014-3529-3

Cited by 28 publications

(7 citation statements)

References 38 publications

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“…It is postulated that both GFRA1 and RET loss of function mutations disrupt initial ureteric branching through a loss of RET signaling 51,69 . There is an often underappreciated association between CAKUT and Hirschsprung's disease, likely mediated by RET signaling 93,94 . RET is a proto‐oncogene coding for a tyrosine kinase receptor whose mutation leads to apoptosis of RET‐expressing enteric neuroblasts and likewise regulates cellular proliferation and apoptosis in the ureteric bud, potentially explaining this clinical association 95,96 …”

Section: Resultsmentioning

confidence: 99%

“…51,69 There is an often underappreciated association between CAKUT and Hirschsprung's disease, likely mediated by RET signaling. 93,94 RET is a proto-oncogene coding for a tyrosine kinase receptor whose mutation leads to apoptosis of RETexpressing enteric neuroblasts and likewise regulates cellular proliferation and apoptosis in the ureteric bud, potentially explaining this clinical association. 95,96 KIF14 encodes a member of kinesin-related ATP-dependent microtubule-based motor proteins that are involved in intracellular transport of membrane-associated organelles, and in proper spindle formation during mitosis.…”

Section: Single Gene Disorder Syndromes Identified In Bra and Not Rep...mentioning

confidence: 99%

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The genetic etiologies of bilateral renal agenesis

Kirschen,

Blakemore,

Al‐Kouatly

et al. 2024

Prenatal Diagnosis

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ObjectiveThe goal of this study was to review and analyze the medical literature for cases of prenatal and/or postnatally diagnosed bilateral renal agenesis (BRA) and create a comprehensive summary of the genetic etiologies known to be associated with this condition.MethodsA literature search was conducted as a scoping review employing Online Mendeliain Inheritance in Man, PubMed, and Cochrane to identify cases of BRA with known underlying genetic (chromosomal vs. single gene) etiologies and those described in syndromes without any known genetic etiology. The cases were further categorized as isolated versus non‐isolated, describing additional findings reported prenatally, postnatally, and postmortem. Inheritance pattern was also documented when appropriate in addition to the reported timing of diagnosis and sex.ResultsWe identified six cytogenetic abnormalities and 21 genes responsible for 20 single gene disorders associated with BRA. Five genes have been reported to associate with BRA without other renal anomalies; sixteen others associate with both BRA as well as unilateral renal agenesis. Six clinically recognized syndromes/associations were identified with an unknown underlying genetic etiology. Genetic etiologies of BRA are often phenotypically expressed as other urogenital anomalies as well as complex multi‐system syndromes.ConclusionMultiple genetic etiologies of BRA have been described, including cytogenetic abnormalities and monogenic syndromes. The current era of the utilization of exome and genome‐wide sequencing is likely to significantly expand our understanding of the underlying genetic architecture of BRA.

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Section: Resultsmentioning

confidence: 99%

Section: Single Gene Disorder Syndromes Identified In Bra and Not Rep...mentioning

confidence: 99%

The genetic etiologies of bilateral renal agenesis

Kirschen,

Blakemore,

Al‐Kouatly

et al. 2024

Prenatal Diagnosis

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“…[4][5][6] Associated anomalies can be present in up to 30% of patients including ophthalmological, and renal anomalies, as well as urinary tract problems. 5,[7][8][9][10] Screening for these conditions is recommended in patients diagnosed with HD. Other anomalies include anorectal malformations, intestinal atresia, cardiac defects, hearing impairment and some central nervous system abnormalities.…”

Section: Epidemi Ology and G Ene Ti C Smentioning

confidence: 99%

“…Associated anomalies can be present in up to 30% of patients including ophthalmological, and renal anomalies, as well as urinary tract problems 5,7–10 . Screening for these conditions is recommended in patients diagnosed with HD.…”

Section: Epidemiology and Geneticsmentioning

confidence: 99%

Hirschsprung's disease. Management

Morera,

Nurko

2024

Aliment Pharmacol Ther

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SummaryBackgroundHirschsprung's disease (HD) is a rare congenital disease that is characterised by the absence of ganglion cells in the myenteric plexus starting in the distal bowel. This results in distal functional obstruction and may lead to complications like enterocolitis. The treatment is surgical and requires the resection of the aganglionic segment, and the pull‐through of normal intestine into the anal opening. However, even after successful surgery, patients may continue to have symptoms.AimDiscuss current surgical techniques and management strategies for patients with postoperative symptoms after surgical correction of Hirschsprung's disease.MethodsA review of the literature was done through PubMed, with a focus on clinical management and approach.ResultsWe describe the clinical problems that can occur after surgical correction. These include obstructive symptoms, enterocolitis, or faecal incontinence. A systematic approach for the evaluation of these patients includes the exclusion of anatomic, inflammatory, behavioural or motility related factors. Depending on the severity of the symptoms, the evaluation includes examination under anaesthesia, the performance of contrast studies, endoscopic studies, measurement of anal sphincter function and colonic motility studies. The treatment is focused towards addressing the different pathophysiological mechanisms, and may include medical management, botulinum toxin to the anal sphincter or rarely redo‐operation.ConclusionsPatients with Hirschsprung's disease need to have surgical correction, and their postoperative long‐term management is complex given a variety of associated problems that can occur after surgery. A systematic evaluation is necessary to provide appropriate therapy.

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“…Частота CAKUT вища в тих родинах, в яких у родичів є випадки аномалій розвитку органів сечової системи. У 3,6-14,3 % випадків поєднується з хворобою Гіршпрунга [6]. На думку S. Weber, у 10 % випадків CAKUTсиндром має генетичне походження.…”

Section: âñòóïunclassified

CAKUT-синдром І Хронічна Хвороба Нирок: Концепція Нефрологічного Підходу

Kushnirenko¹

2022

KIDNEYS

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This article presents the results of the analysis of the etiological structure of chronic kidney disease (CKD) in Kyiv children from 2006 to 2015. In the structure of CKD, CAKUTsyndrome dominates-from 62.3 % (2013) to 80.8 % (2008), an average of 10 years-71.3 ± 2.0 %. The leadership of CAKUT-syndrome in the structure of CKD in childhood determines the vector of the development of modern pediatric nephrology. An interdisciplinary approach to the management of children with CAKUTsyndrome, involving urologist and nephrologist, should be the basis for prevention of CKD progression.

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Congenital anomalies of the kidney and urinary tract (CAKUT) associated with Hirschsprung’s disease: a systematic review

Cited by 28 publications

References 38 publications

The genetic etiologies of bilateral renal agenesis

The genetic etiologies of bilateral renal agenesis

Hirschsprung's disease. Management

CAKUT-синдром І Хронічна Хвороба Нирок: Концепція Нефрологічного Підходу

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