Infantile Hypertrophic Pyloric Stenosis: Epidemiology, Genetics, and Clinical Update

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Pathogenesis

In infants with IHPS, the pyloric portion of the stomach becomes abnormally thickened, resulting in narrowing and elongation of the pyloric channel (Fig. 1). A gastric outlet obstruction is produced, with compensatory dilation, hypertrophy, and hyperperistalsis of the stomach. Most infants with IHPS present in the first 2 to 12 weeks of life with forceful or projectile nonbilious vomiting after feeding. The emesis may become blood-tinged because of gastritis. The timing of the presentation is

Evaluation

Traditionally, the diagnosis of IHPS was based on a history of projectile vomiting and palpation of the hypertrophied pyloric muscle, which is referred to as an olive because of its size and shape. This method, known as palpating the olive, has a 99% positive predictive value [12]. Positive test feeds can also be used diagnostically; however, this approach has unacceptably high false-positive and false-negative rates and is not used extensively [13], [14]. Ultrasound imaging is usually used as

Treatment/management

The vomiting associated with IHPS leads to depletion of sodium, potassium, and hydrochloric acid, resulting in hypokalemic, hypochloremic metabolic acidosis. Because IHPS is not a surgical emergency, fluid and electrolyte losses should be corrected before surgical intervention. This correction typically requires hospitalization and intravenous fluid replacement therapy [2], [3].

The practice of evidence-based medicine requires physicians to review evidence to justify medical decisions and

Epidemiology

The reported prevalence of IHPS has varied considerably by region and time. Although early case reports date from the eighteenth and nineteenth centuries, from the time of Hirschsprung's initial report (1888) through the mid-twentieth century very few cases were examined in case series reports [34]. More recent reports have been varied both in prevalence estimates and trends over time. The most recent national report on prevalence of birth defects for 2003 to 2007 shows state-level prevalence

Genetics

IHPS is a complex condition, resulting from interaction of genetic and environmental factors. Genetic predisposition to IHPS was established by Carter and Powell [48] and Carter [49], who described the multifactorial sex-modified threshold model of inheritance of IHPS, with a male preponderance of 4 to 1. There is significant variation in incidence between populations, with IHPS being most common in white and Hispanic people, and less common in those of African and Asian heritage. The existence

Environmental factors

A variety of environmental and mechanical factors have been implicated in the occurrence of IHPS. A study of isolated IHPS in Sicily by Bianca and colleagues [65] established the association of IHPS with primiparity and low parity status. There was a suggestion that the increased ratio of affected boys to affected girls may be associated with greater parity. There was no association with birth weight or maternal age. Increased incidence of IHPS has been reported in infants exposed prenatally to

Summary

This review summarizes the current knowledge concerning the pathogenesis, cause, genetics, epidemiology, and treatment of idiopathic hypertrophic pyloric stenosis of infancy. Pyloromyotomy remains the treatment of choice in Western countries, with the laparoscopic approach favored because of shorter recovery time and lower rate of wound complications. Treatment with IV or oral atropine has been successful predominantly in Asian countries, although this may require a week or more and surgery is

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      Infants with this disease typically present between 2 and 12 wk of life with postprandial emesis. In patients with HPS, the vomiting leads to a loss of chloride and potassium, causing hypochloremic, hypokalemic metabolic alkalosis, which must be corrected before surgical treatment.4,5 Surgical treatment with an open or laparoscopic pyloromyotomy is curative.6

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      IHPS is a common pediatric surgical condition which had been subjected recently to changes in the patient's age with water and electrolytes state on presentation [8,9]. Due to awareness of the condition and the availability and improvements in the imaging studies namely the ultrasound the diagnosis of the condition becomes earlier with less metabolic derangement [10]. In this paper we present a late onset of pyloric stenosis in which the baby experienced projectile vomiting at the age of 5 months.

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