Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease

Prato, Alessio Pini; Arnoldi, Rossella; Falconi, Ilaria; Dusio, Maria Pia; Ceccherini, Isabella; Tentori, Augusta; Felici, Enrico; Nozza, Paolo

doi:10.1007/s00467-021-05061-4

Cited by 13 publications

(11 citation statements)

References 27 publications

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“…Najčešće se sporadično javljaju iako neki oblici anomalija mogu bit i nasljedni. Najčešće, ano malije mokraćnog sustava uzrokuju opstrukciju tijeka mokraće [2][3][4] . Uz ove anomalije u oko 50-75% slučaje va nalazimo pridružene anomalije drugih organskih sustava 4,5 .…”

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Surgical approach to the treatment of urinary tract anomalies

2022

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Ključne riječi ANOMALIJE MOKRAĆNOG SUSTAVA; ANOMALIJE BUBREGA; KIRURŠKO LIJEČENJE SAŽETAK. Anomalije mokraćnog sustava su najčešće kongenitalne anomalije uopće i uključuju različite promjene oblika, položaja i mase bubrega, promjene krvožilnog sustava bubrega, cistične bolesti bubrega, anomalije položaja bubrega, anomalije uretera, mokraćnog mjehura i mokraćne cijevi. Čine oko 30% svih kongenitalnih anomalija. Danas nam u liječenju prirođenih anomalija mokraćnog sustava na raspolaganju stoje brojne kirurške metode (endoskopske, minimalno invazivne i klasične). U ovom preglednom radu prikazujemo najčešće anomalije mokraćnog sustava u djece i modalitete kirurškog liječenja.

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Surgical approach to the treatment of urinary tract anomalies

2022

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“…Additionally, we identified a novel noncanonical splice site variant in the Hirschsprung and CAKUT-associated protooncogene RET (MIM# 142623): c.1760–5C>A, p.? (NM_020975.4) [ 7 ]; a variant that was found to be absent from both patient and population databases and parental segregation demonstrated paternal inheritance. This substitution was predicted to affect splicing at the acceptor site of RET exon 10.…”

Section: Resultsmentioning

confidence: 99%

Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia

Petzold

Hantmann

et al. 2022

Clinical Kidney Journal

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Background Congenital abnormalities of the kidney and urinary tract (CAKUT) are characterized by vast phenotypic heterogeneity and incomplete penetrance. Although CAKUT represent the main cause of pediatric chronic kidney disease, only around 20% can be explained by single-gene disorders to date. While pathogenic alterations of PBX1 were recently associated with a severe form of syndromic CAKUT, most CAKUT-patients survive childhood and adolescence to reach end-stage kidney disease later in life. Although somatic mosaicism is known to attenuate severity in other kidney diseases, it has rarely been described nor systematically been assessed in CAKUT. Methods In-depth phenotypic characterization of the index patient and his family. Targeted next-generation sequencing (NGS), segregation analysis, and work-up of mosaicism with DNA isolated from peripheral blood cells, oral mucosa, and cultured urinary renal epithelial cells (URECs). Results Somatic mosaicism was identified in a 20-year-old male with sporadic but mild syndromic renal hypoplasia. He was found to carry a novel de novo truncating variant in PBX1 (c.992C > A, p.(Ser331*)). This variant was detected in 26% of sequencing reads from blood cells, 50% from oral mucosa, and 20% from cultured URECs. Conclusions PBX1 associated CAKUT is characterized by a wealth of de novo mutations. As in de novo cases, mutations can occur intra- or post-zygotically, genetic mosaicism might represent a more common phenomenon in PBX1-disease, accounting for variable expressivity on a general basis. Consequently, we suggest ruling out somatic mosaicism in sporadic CAKUT, notably in attenuated and atypical clinical courses.

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“…Female patients had better postoperative outcomes than males. 29 However, the female patients might have an increased risk of experiencing constipation, which can affect the patient's quality of life. 30 Likewise, nutritional status does not have a significant effect considering the small number of samples in this study.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of Bowel Function on Patient Post Operative Hirschsprung Disease

Faradiba,

Athiyyah,

Hariastawa

2023

JUXTA

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Highlights:1. All HD patients have good defecation quality after surgery.2. Almost all HD patients can control bowel movements without constipation or social problems after surgery.3. The most common problem patients face after surgery is soiling, which sometimes requires diapers. AbstractIntroduction: Hirschsprung's disease (HD) is a congenital disease in which Meissner and Auerbach's plexus ganglion cells are lost on the distal side of the digestive tract, thus interfering with defecation. The postoperative defecation process was assessed to describe the patient's quality of life. This study aimed to describe the quality of defecation in pediatric HD patients after surgery. Methods: This was a descriptive study on pediatric PD patients who received surgery in Dr. Soetomo General Academic Hospital, Surabaya, from 2018 to 2021. Demographic data came from Dr. Soetomo General Academic Hospital, Surabaya. The incontinence evaluation was assessed using the Rintala Score.Results: A total of 14 pediatric HD patients underwent definitive surgery and had good scores on the Rintala score. There were 2 (14.3%) patients with maximum scores, 6 (42.9%) patients with normal scores, and 6 (42.9%) patients with good scores. The highest distribution in patients was always being able to hold bowel movements (81.8%), uncertain in reporting the desire to defecate (40.9%), 1-2 times a day (68.2%), never dirty (54.5%), never constipated (77.3%), and had no social problems (77.3%).Conclusion: Pediatric HD patients had a good outcome after a definitive operation. The most common demographics with high satisfaction rates were male and female patients with normal nutritional status, above one-year-old, normal birth weight, and term labor.

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Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease

Cited by 13 publications

References 27 publications

Surgical approach to the treatment of urinary tract anomalies

Surgical approach to the treatment of urinary tract anomalies

Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia

Evaluation of Bowel Function on Patient Post Operative Hirschsprung Disease

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