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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
CLINICAL FEATURES OF THE COURSE OF HIRSCHSPRING'S DISEASE INCHILDREN OF THE FIRST YEAR
V Prytula1, O Kurtash2, V Rybalchenko3
11National Medical University named after O.O. Bogomolets, Kyiv; 2National Children's Specialized Hospital "OKHMATDYT", Kyiv, Ukraine.
Insights
This study analyzed 483 infants with Hirschsprung's disease, finding that clinical presentation varies, especially in the first month of life. Associated malformations significantly impact the disease course, necessitating distinction between typical and atypical forms for accurate diagnosis.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Clinical Genetics
Background:
- Hirschsprung's disease is a congenital disorder affecting the large intestine, characterized by the absence of ganglion cells.
- Early diagnosis and management are crucial for infant outcomes.
- Clinical presentation can be variable, particularly in neonates and infants.
Purpose of the Study:
- To investigate the clinical course of Hirschsprung's disease in infants under one year of age.
- To identify key symptoms for disease verification.
- To assess the impact of concomitant malformations on clinical presentation.
Main Methods:
- Retrospective analysis of 483 infants diagnosed with Hirschsprung's disease between 1980 and 2021.
- Review of clinical data, including symptoms, complications, extent of aganglionosis, and associated malformations.
- Classification of clinical presentation into typical and atypical forms.
Main Results:
- A typical clinical picture was observed in 91.93% of patients, characterized by absent meconium excretion, abdominal distension, poor weight gain, and vomiting.
- Atypical presentations (8.07%) were often associated with other congenital anomalies like atresias.
- Complications included enterocolitis (65.22%) and anemia (49.89%).
- Concomitant malformations were present in 20.29% of patients, influencing the clinical course.
Conclusions:
- The clinical course of Hirschsprung's disease in infants is significantly influenced by the presence of associated developmental defects.
- Distinguishing between typical and atypical clinical forms is essential for accurate diagnosis and management.
- Early identification of symptoms and associated anomalies is critical for improving outcomes in infants with Hirschsprung's disease.
Abstract:
The purpose of the work - to investigate the peculiarities of the clinical course of Hirschsprung's disease in children of the first year of life and to determine the significance of symptoms in the verification of the disease. From 1980 to 2021, at the pediatric surgery clinic of the National Medical University named after O.O. Bogomolets on the basis of the National Children's Specialized Hospital "OKHMATDYT" and in the pediatric surgery clinic of the Ivano-Frankivsk National Medical University on the basis of the Ivano-Frankivsk Regional Children's Clinical Hospital, 483 children of the first year of life suffering from Hirschsprung's disease were examined and treated. The clinical manifestation and course of aganglionosis varied in length at the time of hospitalization and depended on the time after birth. During the first month of life, 97 (20.08%) patients were hospitalized, of which 39 (8.07%) hadatypical clinical picture due to: colonic atresia in 15 (3.10%), colonic atresia + gastroschisis in 3 (0.62%), ileal atresia in 9 (1.86%), esophageal atresia in 3 (0 .62%), clefts of the hard and soft palate in 9 (1.86%). Depending on the age, there were 280 (57.97%) patients under 6 months, and 203 (42.03%) patients between 6 months and 1 year. The classic typical clinical picture was in 444 (91.93%) patients, which was characterized by the absence of meconium excretion, abdominal distension in 444 (91.93%), delayed physiological weight gain against the background of nutritional insufficiency with the development of hypotrophy in 327 (67.70%) , vomiting of stagnant gastric and intestinal contents in 417 (86.34%). On the other hand, enterocolitis in 315 (65.22%), toxic megacolon in 16 (3.31%), and anemia of various degrees occurred in 241 (49.89%) patients among the complications that arose during the examination of patients with Hirschsprung's disease. According to the results of a comprehensive examination, the following extent of aganglionosis was established: rectal in 100 (20.70%), rectosigmoid in 192 (39.75%), subtotal in 150 (31.06%) and total in 41 (8.49%) patients. Concomitant malformations were found in 98 (20.29%) patients: renal malformations were diagnosed in 7 (1.45%) patients, concomitant heart malformations in 18 (3.73%) patients. Associated intraoperative findings were Meckel's diverticulum in 5 (1.03%) and congenital cyst of the right ovary in 1 (0.21%) patient. The clinical course was affected by concomitant malformations: incomplete bowel rotation in 10 (2.07%) and internal abdominal hernia in 2 (0.42%). The clinical manifestations and course of Hirschsprung's disease primarily depend on the presence of accompanying developmental defects, which may prevail during the examination due to vital disorders. In the clinical course of Hirschsprung's disease, it is necessary to distinguish between typical and atypical forms. Typical clinical symptoms were in 444 (91.93%), and atypical in 39 (8.07%).
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