Materiały źródłowe

• #1 Hirschsprung Disease: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/178493-overview

  Hirschsprung disease affects approximately 1 case per 5400-7200 newborns annually. […] Although the exact worldwide incidence is unknown, international studies have reported rates ranging from approximately 1 case per 1500-7000 newborns. […] Hirschsprung disease affects all races; however, it is roughly 3 times more common among Asian-Americans. […] This disease occurs more often in males than in females, with a male-to-female ratio of approximately 4:1; however, the ratio in long-segment disease decreases to 2:1. […] Hirschsprung disease is uncommon in premature infants. However, the age at which Hirschsprung disease is diagnosed has progressively decreased over the past century. In the early 1900s, the median age at diagnosis was 2-3 years; from the 1950s to 1970s, the median age was 2-6 months. Currently, approximately 90% of patients with Hirschsprung disease are diagnosed in the newborn period.

• #2 Pediatric Hirschsprung Disease: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/929733-overview

  Hirschsprung disease occurs in approximately 1 per 5000 live births. The worldwide prevalence may vary by region and has been shown to be as high as 1 per 3000 live births in the Federated States of Micronesia. […] Hirschsprung disease is approximately four times more common in males than females. Nearly all children with Hirschsprung disease are diagnosed during the first 2 years of life. Approximately one half of children affected with this disease are diagnosed before they are aged 1 year. A small number of children with Hirschsprung disease are not recognized until much later in childhood or adulthood.

• #3 Congenital aganglionic megacolon (Hirschsprung disease) – UpToDate

  https://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease/print

  Hirschsprung disease (HD) occurs in approximately 1 in 5000 live births, with an overall male:female ratio of 3:1 to 4:1. The sex ratio decreases with more extensive aganglionosis, approaching 1:1 for total colon aganglionosis. There is familial clustering for nonsyndromic HD, with an overall recurrence risk of approximately 3 percent in siblings for short-segment disease or up to 17 percent if the proband has long-segment disease. This sibling recurrence risk is higher if the proband is a female and is also higher if multiple family members are affected.

• #4

  https://link.springer.com/article/10.1007/s00383-018-4363-9

  This study seeks to update current epidemiology of Hirschsprung disease (HD) in California. […] Of 9.3 million births, 2,464 patients were identified. Incidence was 2.2 cases/10,000 live births, with rates peaking at 2.9/10,000 births in 2002. Incidence was highest among African American (4.1/10,000) and Asian/Pacific Islander (2.5/10,000) births. […] In California, the incidence of HD is stable, risk is highest among African American children, and the mortality rate is 2%.

• #5 Hirschsprung’s Disease | Doctor

  https://patient.info/doctor/hirschsprungs-disease-pro

  Affects 1 in 5,000 live births worldwide. […] A study in the North of England found a live birth prevalence of 1.65 per 10,000 live births. […] The male to female ratio is 4:1. […] At least half of all cases are diagnosed in the first year of life and, by the age of 2, most have been diagnosed. […] There are a few in whom diagnosis is delayed until later childhood or even adulthood.

• #6 The Prevalence and Clinical Profile of Hirschsprung’s Disease at a Tertiary Hospital in Bahrain

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7854313/

  Hirschsprungs disease (HD) is a rare but important congenital pediatric disease of the colon, and its incidence varies widely between ethnic groups. Its incidence was first studied in Bahrain in 1980 using hospital-based data. Over a 16-month period, 10 cases were reported, representing a relatively high incidence rate: 1 per 4000 births. […] The prevalence of HD in Bahrain was found to be 1.3 per 10,000 live births, according to 18 patients qualified for inclusion in this study. […] The prevalence of HD in Bahrain, 1.3 per 10,000 live births, is consistent with the worldwide incidence, 1 to 2 per 10,000 live births.

• #7 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Hirschsprungs-Disease-(HD).aspx

  HD is a condition that is estimated to affect about 1 in every 1500 1700 newborns worldwide and seems to have an occurrence three times more frequent in Asian-Americans compared to other races. […] Moreover, the disease has a greater predilection for males than in females with a male to female ratio of 4:1. […] Thanks to great strides in medicine and technology, most cases can be diagnosed in the neonatal period, much earlier than diagnosis at 2 3 years, which was the case in the early to mid 1900s.

• #8 Hirschsprung’s disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives | Pediatric Research

  https://www.nature.com/articles/pr2016202

  Hirschprungs disease (HSCR; MIM# 142623), one disorder of the ENS, is a rare congenital developmental disorder of the gastrointestinal tract characterized by a failure of vagal system derived enteric neural crest (NC) cells (ENCC) (neurocristopathy) to fully migrate cranio-caudally during embryonic development and adequately colonize the entire gut, leaving an aganglionic portion of variable length. […] HSCR has a population-dependent incidence of 1.5-2.8 per 10,000 births (1.5 in Caucasians and 2.8 in Asians; average 1/5,000 live births) and is a largely variable heterogeneous condition both from the clinical and genetic point of view. […] Genetic studies revealed that there is an elevated risk to relatives in terms of heritability in comparison to the general population. There is a higher incidence of HSCR in some individuals of Chinese descent versus other populations and accepted figures include an incidence of 1.0, 1.5, 2.2, 2.8 per 10,000 live births in Hispanics, Caucasian-Americans, African-Americans and Asians, respectively. […] The sex bias exhibited in HSCR depends on the length of the aganglionic segment, and is manifested in the observation that both incidence and penetrance is 24-fold higher in males.

• #9 Hirschsprung disease – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/hirschsprung-disease/

  Incidence: 1 in 5000 live births. […] Epidemiological data refers to the US, unless otherwise specified. […] Sex: (4:1)

• #10 Hirschsprung’s disease – Postsurgical intestinal dysmotility | Revista Paulista de Pediatria (English Edition)

  https://www.elsevier.es/en-revista-revista-paulista-pediatria-english-edition–409-articulo-hirschsprung39s-disease-postsurgical-intestinal-S2359348216300252

  Surgical therapy in HD minimizes the complications of intestinal obstruction when the aganglionic segment is completely resected. In some patients, postoperative intestinal dysmotility persists, most often manifested as chronic constipation and recurrent episodes of enterocolitis. […] In 90% of patients, HD manifests itself in the neonatal period, characterized by delay in the first passage of meconium and progressive abdominal distension; bilious vomiting occur in 19-37% of cases. The delay in elimination of meconium in the first 24h of life is the strongest indicator of the condition and is reported in up to 90% of patients with the disease. […] The clinical features of HDTCA generally differ from classic forms, namely the incidence between sexes: in the classic form, it is four males to one female; in HDTCA, it is 1:1. The clinical presentation with neonatal intestinal obstruction may not be part of the clinical picture of HDACT.

• #11 (PDF) Hirschsprung’s disease: the Australian Paediatric Surveillance Unit’s experience

  https://www.academia.edu/103903283/Hirschsprungs_disease_the_Australian_Paediatric_Surveillance_Units_experience

  Hirschsprung’s disease (HD) was introduced into the Australian Paediatric Surveillance Unit (APSU) system in 1996 with the objective to collect data on demographics, incidence, family history, associated anomalies, clinical features, investigation, and surgical treatment in Australia. […] Nationwide, 127 children with HD were reported from January 1997 to December 2000, and near-complete information was available on 126. […] The majority of children with HD are diagnosed in the neonatal period (90%). […] Pre-and post-operative enterocolitis is still a significant problem.

• #12 Hirschsprung Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562142/

  HD occurs in 1/5000 live births and has an overall 4:1 male predominance. […] The diagnosis is made in 65% of the cases before the age of 1 month and in 95% of the cases before the age of one year. […] It is rarely diagnosed during adulthood, although the eldest age at presentation reported in the literature is seventy-four years.

• #13 Hirschsprung disease | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/hirschsprung-disease?embed_domain=hackmd.io%25252F%252540yIPUAFeCSL2JsU8smR5nJQ%25252Fbnjhjgjghjghjgh&lang=us

  Hirschsprung disease affects approximately 1:5000-8000 live births. In short-segment disease, there is a significant predilection for males (M:F = ~3.5:1), which reduces with the increasing length of involvement 4,6. […] Interestingly, it is almost never seen in premature infants.

• #14 Hirschsprung’s Disease | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/h/hirschsprung

  Hirschsprungs disease occurs in about 1 out of 5,000 live births. It is three times more common in males than females. About 5% of cases are linked to Trisomy 21 (Down syndrome). About 2% of cases are linked to Mowat-Wilson syndrome. […] Most people with Hirschsprungs disease do not have a family history of the disease. But, if one parent has Hirschsprungs disease, there is about a 1% chance their child will have it too. If a couple has a child with Hirschsprungs disease, there is about a 5% chance that a sibling will be born with it. If a parent or child has long-segment Hirschsprungs disease, the chances a sibling will be born with Hirschsprungs disease are higher than if the parent or child has short-segment Hirschsprungs disease.

• #15 Hirschsprung disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/hirschsprung-disease/

  Hirschsprung disease occurs in approximately 1 in 5,000 newborns. […] Approximately 20 percent of cases of Hirschsprung disease occur in multiple members of the same family. The remainder of cases occur in people with no history of the disorder in their families.

• #16 Hirschsprung’s Disease: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/1015/p1319.html

  Hirschsprungs disease occurs in one out of 5,000 births.1 The cause of Hirschsprungs disease is multifactorial, and the disease can be familial or develop spontaneously.2 It is more common in boys than girls.1 Approximately 3 to 5 percent of male siblings and 1 percent of female siblings of children with short-segment disease also have the disease.5 However, the risk is substantially higher (12.4 to 33 percent) in siblings of children with total colonic involvement.6 […] Eight genomes have been associated with Hirschsprungs disease1,2; however, most cases are not considered familial. Current research is focusing on the RET proto-oncogene on chromosome 10q11.2.2,7 Hirschsprungs disease associated with this gene has been linked to multiple endocrine neoplasia, type IIA (i.e., medullary carcinoma of the thyroid and adrenal tumors).7 Research on the value of screening for this mutation to determine the risk of multiple endocrine neoplasia, type IIA, is ongoing.3,8,9

• #17 Hirschsprung’s disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation | Journal of Human Genetics

  https://www.nature.com/articles/jhg201254

  Hirschsprungs disease (HSCR) results from failed colonization of the embryonic gut by enteric neural crest cells (ENCCs); colonization requires RET proto-oncogene (RET) signaling. Overall prevalence of HSCR is estimated at 1/5000 live births. HSCR is a multifactorial disorder exhibiting non-Mendelian inheritance and low, sex-dependent penetrance with male preponderance. The high recurrence among siblings and the occurrence of HSCR as part of the phenotype of various syndromes suggest the importance of genetic factors. Our population-based study not only identified novel RET variants in HSCR cases, it showed that common RET variants may not contribute to HSCR in all race/ethnic groups. The findings for HOXB5 and PHOX2B provide supportive evidence that genes regulating ENCC proliferation, migration and differentiation could be risk factors for HSCR.

• #18 Hirschsprung’s disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation | Journal of Human Genetics

  https://www.nature.com/articles/jhg201254

  Given the potential importance of common genetic variants in HSCR, and the failure to identify disease-causing rare mutations in most nonfamilial HSCR cases, our objective was to examine associations between HSCR and single-nucleotide polymorphisms (SNPs) in candidate genes (ASCL1, HOXB5, L1CAM, PHOX2B, PROK1 and PROKR1) for which there is evidence of a role in the proliferation, migration and differentiation of ENCCs. We also investigated differences in the associations between selected RET SNPs and HSCR by race/ethnicity because such differences might exist but have received little attention. […] The main statistical analysis included 1215 controls and 301 unrelated, isolated cases. The case group comprised the older sibling from each of three case sibling pairs (from different gestations) and 298 unrelated cases. Data on maternal and infant characteristics were obtained from the birth certificates and compared between case and control groups using Fishers exact test.

• #19 Hirschsprung’s disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation | Journal of Human Genetics

  https://www.nature.com/articles/jhg201254

  We found that associations between common RET variants and HSCR varied by race/ethnicity: no association was present in African-Americans. We also confirmed previously reported associations with HOXB5 and PHOX2B, suggesting that interactions between RET and genes that regulate proliferation, migration and differentiation of ENCCs may be important in HSCR.

• #20 Hirschsprung’s Disease: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/1015/p1319.html

  Hirschsprungs disease also can be associated with neurologic, cardiovascular, urologic, and gastrointestinal abnormalities. Down syndrome (trisomy 21) is the most common chromosomal abnormality associated with the disease, accounting for approximately 10 percent of patients.1 Other conditions that have been linked to Hirschsprungs disease include congenital deafness, hydrocephalus, diverticulum of the bladder, Meckels diverticulum, imperforate anus, ventricular septal defect, renal agenesis, cryptorchidism, Waardenburgs syndrome (pigment defects associated with deafness), neuroblastomas, and Ondines curse (primary alveolar hypoventilation).3,4

• #21 Hirschsprung’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Hirschsprung%27s_disease

  According to a 1984 study conducted in Maryland, Hirschsprung’s disease appears in 18.6 per 100,000 live births. In Japan, it occurs at a similar rate of about one in 5,000 births (20 per 100,000). It is more common in male than female (4.32:1) and in white rather than nonwhite. Nine percent of the Hirschsprung cases were also diagnosed as having Down syndrome. Most cases are diagnosed before the patient is 10 years of age.

• #22 Epidemiology – GPnotebook

  https://gpnotebook.com/en-GB/pages/gastroenterology/hirschsprungs-disease/epidemiology

  The incidence of Hirschsprung’s disease is one per 4500 live births, but is ten times more common in people with Down’s syndrome. Males are affected three times more frequently than females. […] The condition is inherited as a multifactorial trait with a male risk of 1 in 25 to sibs, and a female risk of 1 in 8.

• #23 Hirschsprung Disease | 5-Minute Pediatric Consult

  https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617253/all/Hirschsprung_Disease?q=Disease+Wilson

  Most common cause of lower intestinal obstruction in neonates: 1 in 5,000 births. […] Involves the rectum and sigmoid in 75%, descending colon in 14%, total colon in 8%, and small bowel in 3%. […] There is familial incidence in total colonic (15-21%) and total intestinal aganglionosis (50%). […] Male predominance with short segment disease ranging from 3:1 to 4:1. […] Gender predominance 1:1 in long segment disease. […] Syndromic and nonsyndromic Hirschsprung disease (HD): In the former, there are other congenital anomalies (30% of cases), whereas in the latter, it occurs as an isolated trait.

• #24 Hirschsprung’s disease – Pathophysiology – TeachMePaediatrics

  https://teachmepaediatrics.com/surgery/abdominal/hirschsprungs-disease/

  The international incidence of Hirschprung disease is believed to be 1 case per 1,500-1,700 (1). Around 90% of these present in the neonatal period, with the median age of presentation at 2 days. The most common clinical feature at presentation is abdominal distension and bilious vomiting with failure to pass meconium (2). […] Males have a higher incidence to female, and the male: female ratio is estimated to be 4:1(3). […] HD is strongly associated with chromosomal abnormalities, with 10-15% HD cases associated with trisomy 21 (Down Syndrome). […] There are three main subtypes of Hirschsprungs disease, which are short-segment, long-segment, and total colonic aganglionosis disease. The short segment is the most common, consisting of 85% of cases, where the aganglionosis is restricted to the rectosigmoid portion of the colon (figure 1). The long-segment disease is significantly less common, making up 10% of the cases, where the aganglionosis extends past the rectosigmoid portion of the colon to the splenic flexure. Rarely, theres total colonic aganglionosis, where the entire colon is affected, which tends to be the severest form of the disease. Even rarer, the distal small bowel is affected, and this is associated with a high mortality and morbidity (1).

• #25 Open Proctocolectomy for Hirschsprung’s Disease | Journal of Medical Insight

  https://jomi.com/article/278.7/open-proctocolectomy-for-hirschsprungs-disease

  Hirschsprung’s disease is a congenital disorder with a reported incidence of 1/5000 live births with a male preponderance of 3:1. It is the main genetic cause of functional intestinal obstruction. Most cases are diagnosed in the first few months of life given classical presentation and ease of testing with rectal suction biopsy. […] Hirschsprungs disease (HD, congenital aganglionic megacolon) is a disorder due to the absence of enteric ganglion cells due to the failure of the neural crest cells during development. It has a reported incidence of 1/5000 live births. Patients most commonly present with constipation (88.9%), abdominal distention (88.9%), and failure to pass meconium within 24 hours after birth (76.5%). […] Patients with less severe disease (short segment HD) may not be diagnosed until later in life. Approximately 10% of cases may be diagnosed after 3 years of age; uncommonly, HD may be diagnosed in adults.

• #26 Hirschsprung’s disease – Postsurgical intestinal dysmotility | Revista Paulista de Pediatria (English Edition)

  https://www.elsevier.es/en-revista-revista-paulista-pediatria-english-edition–409-articulo-hirschsprung-s-disease-postsurgical-intestinal-S2359348216300252

  Surgical therapy in HD minimizes the complications of intestinal obstruction when the aganglionic segment is completely resected. In some patients, postoperative intestinal dysmotility persists, most often manifested as chronic constipation and recurrent episodes of enterocolitis. Different histopathologic findings can be identified in these cases, such as incomplete resection of the aganglionic segment, hypoganglionosis, and intestinal neuronal dysplasia juxtaposed to the aganglionic zone. […] In 90% of patients, HD manifests itself in the neonatal period, characterized by delay in the first passage of meconium and progressive abdominal distension; bilious vomiting occurs in 19-37% of cases. The delay in elimination of meconium in the first 24h of life is the strongest indicator of the condition and is reported in up to 90% of patients with the disease. However, some reports have demonstrated that up to 40% of patients can eliminate meconium in the first hours of life, which indicates that this is not a required sign for diagnosis.

• #27 Hirschsprung’s disease – Postsurgical intestinal dysmotility | Revista Paulista de Pediatria (English Edition)

  https://www.elsevier.es/en-revista-revista-paulista-pediatria-english-edition–409-articulo-hirschsprung-s-disease-postsurgical-intestinal-S2359348216300252

  The clinical features of HDTCA generally differ from classic forms, namely the incidence between sexes: in the classic form, it is four males to one female; in HDTCA, it is 1:1. The clinical presentation with neonatal intestinal obstruction may not be part of the clinical picture of HDACT. Late onset of symptoms (in the first weeks of life or even later, as some cases are diagnosed in adolescence) is not uncommon in this form of the disease. […] The occurrence of severe diarrhea in neonates is an exceptional condition in those who are exclusively breastfed and may represent evidence of serious complication from HD or another underlying disease. The enterocolitis associated with HD is observed in 50% of cases, with a higher frequency at the first trimester and first year of life, may occur prior to or after surgery. The preoperative occurrence is more common when the diagnosis is made after the first month of life.

• #28 Hirschsprung’s disease – Pathophysiology – TeachMePaediatrics

  https://teachmepaediatrics.com/surgery/abdominal/hirschsprungs-disease/

  The classic finding on contrast is a short transition zone between the proximal end of the colon and the narrow distal end of colon (see: https://radiopaedia.org/cases/hirschsprung-disease?lang=us). A rectal diameter similar or equal to the sigmoid colon is also highly suggestive of Hirschsprungs disease (5). […] The gold standard for diagnosis is a rectal suction biopsy, as the submucosa needs to be tested for ganglionic cells. This is a simple bedside procedure with a high degree of accuracy and without the risks associated with general anaesthetic (6). […] Although its the gold standard for diagnosis, NICE guidelines suggest that rectal suction biopsy should be avoided unless the following clinical features are present (7): Delayed passage of meconium (more than 48 hours after birth in term babies), Constipation since first few weeks of life, Chronic abdominal distension plus vomiting, Family history of Hirschsprungs disease, Faltering growth in addition to any of the previous features.

• #29 Orphanet: Hirschsprung disease

  https://www.orpha.net/en/disease/detail/388

  Hirschsprung disease (HSCR) has an estimated prevalence at birth of 1/5,000-10,000 worldwide. In rectosigmoid HSCR, there is a male predominance of 4:1. […] Overall survival and functional prognosis are good in rectosigmoid or long-segment Hirschsprung, despite issues with constipation and continence even following surgical correction. Functional prognosis of total colonic Hirschsprung’s is acceptable. The prognosis for children with small bowel or total intestinal aganglionosis leading to intestinal failure can be poor although intestinal transplantation is attempted to offer long term survival in complicated cases. Hirschsprung enterocolitis occurs in 30-50% of the cases but reacts well to treatment in most cases.

• #30 Open Proctocolectomy for Hirschsprung’s Disease | Journal of Medical Insight

  https://jomi.com/article/278.7/open-proctocolectomy-for-hirschsprungs-disease

  These patients will often require long-term follow-up for identification and treatment of any long-term complications including persistent obstructive symptoms, soiling/incontinence, and enterocolitis. Follow-up with the surgeon is recommended at least until the child is beyond toilet-training years. Most of these problems resolve within 5 years with a majority of patients reporting satisfactory outcomes. […] Guidelines for the management of postoperative obstructive symptoms in children with HD have been published by the American Pediatric Surgical Association. […] Enterocolitis is a major contributor to postoperative morbidity and even mortality with an incidence rate of up to 45%. It most commonly occurs within the first year of surgical repair.

• #31

  https://step2.medbullets.com/pediatrics/120612/hirschsprung-disease

  Epidemiology […] Boys girls (4:1) […] […] […] Overall mortality 1%

• #32 Outcomes at five to eight years of age for children with Hirschsprung’s disease | Archives of Disease in Childhood

  https://adc.bmj.com/content/106/5/484

  Of the 239 (78%) of 305 children, twelve children (5%) died prior to 5 years of age. […] This study gives a realistic picture of population outcomes of HD in primary school-aged children in the UK/Ireland. The high rates of faecal incontinence, unplanned procedures and low quality of life scores are sobering. […] The majority of children with HD are likely to have continence issues, and highly likely to have undergone multiple unplanned reoperations. […] The study provides a realistic picture of primary-school aged outcomes, which can be used for the counselling of parents. […] Overall, this study gives a realistic picture of the population outcomes for primary school-aged children with HD in the UK and Ireland. The high rates of faecal incontinence, need for enemas or colonic washouts, unplanned reoperations and low quality of life scores are sobering, and give pause to reflect on the way children with HD are currently managed.

• #33 Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis | BMC Gastroenterology | Full Text

  https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-020-01208-z

  HD patients older than ten years old have an overall high prevalence of fecal incontinence and a low quality of life. Targeted and evidence-based follow-up procedures and transitional care are essential to meet these patients long-term care needs. Prospective and multicenter research that focuses on the attributes and predictors of the long-term prognosis of patients with HD are necessary. […] The pooled prevalence of fecal incontinence in patients with HD who were older than ten years is 20% (95% CI 0.130.28), which is much higher than that of the general population (1.6% in teenagers and 7.7% in adults). […] Regarding the epidemiology of constipation, we estimated that 14% (95% CI: 0.060.25) of patients with HD experience constipation onset when they reach ten years old, which is comparable to the estimate of the prevalence of constipation in the general population (16% in teenagers and 12 to 19% in adults). […] Compared to the general population, adolescent and adult patients with HD surgical history tend to have a higher prevalence of fecal incontinence and lower gastrointestinal-related quality of life, although these patients generally have satisfactory bowel and urinary function.

• #34 Hirschsprung Disease (also called congenital megacolon, congenital intestinal aganglionosis or aganglionic megacolon) – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/hirschsprung.html

  Hirschsprung disease occurs in 1 of 5000 live births and accounts for 20% of neonatal bowel obstructions. […] Our program has been tracking Hirschsprung disease among live births in select counties since 2005 and are gradually expanding statewide. […] Using data from births to Hennepin and Ramsey county residents between 2012-2016, we found that 2.6 babies were born with Hirschsprung disease per 10,000 births. […] Using this data, we estimate about 18 babies are born with Hirschsprung disease every year in Minnesota.

• #35 Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis | BMC Gastroenterology | Full Text

  https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-020-01208-z

  Advances in surgical techniques and perioperative care have improved the short- and mid-term postoperative outcomes of patients with Hirschsprung disease (HD). However, the long-term outcomes of these patients (older than 10 years) have not been fully investigated. The aim of this systematic review is to clarify the prevalence of long-term outcomes and the quality of life of these patients. […] The purpose of this study is to estimate the prevalences of fecal incontinence, constipation, bowel function, bladder dysfunction symptoms and QoL of patients with HD surgical history who reached ten years old or older. These findings can contribute to knowledge on the prognosis of patients with HD and facilitate the design of evidenced-based follow-up and better transitional care for these patients.

Zobacz więcej