What Causes Bad Diarerrhea in 2 Month Old Baby

MedGenMed. 2005; 7(1): 13.

Published online 2005 Mar nine.

A two-Calendar month-Onetime With Persistent Diarrhea

Douglas Jacobstein

Division of Gastroenterology & Nutrition, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania

Jonathan Markowitz

Division of Gastroenterology & Nutrition, The Children'due south Hospital of Philadelphia, Academy of Pennsylvania School of Medicine, Philadelphia, Pennsylvania

Petar Mamula, MD, Manager; Assistant Professor of Pediatrics and David A. Piccoli, Doc, Primary; Professor of Pediatrics

Petar Mamula, Division of Gastroenterology & Nutrition; Endoscopy Suite, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania;

Case Presentation

A 2-month-old male was admitted to the infirmary for dehydration associated with persistent diarrhea. The patient had no history of fever, vomiting, or hematochezia. Attempts to breast-feed the patient early in life were unsuccessful secondary to diarrhea that began on day 4 of life. During the prior 2 months, the patient had been tried on multiple formulas including cow's milk-based, fractional hydrolysate, and amino-acid formulas, with continued diarrhea.

The patient was a total-term infant with a nascency weight of 3.six kg. There were no complications reported with labor or delivery. There was no history of medical problems. Family history was unremarkable. The patient was not taking any medications and had no recent illnesses or sick contacts.

On examination, the patient was in the 10th percentile for weight and length. He was in no acute distress. The mucous membranes were mildly dry and he was anicteric. Lungs and heart exam were normal. The abdomen was soft, nondistended, and without hepatosplenomegaly. Neurologic, musculoskeletal, and pare exams were normal. The stool was negative for occult blood.

Complete blood count and electrolytes were normal. Stool studies including routine civilisation, ova and parasite testing, and toxins for Clostridium difficile were negative. Stool was positive for reducing substances with a pH of 5. Upper endoscopy and flexible sigmoidoscopy revealed no histologic abnormalities (not shown). When oral intake was stopped, there was quick resolution of the diarrhea.

1. How would y'all interpret the results of this patient'due south work-up thus far?

   The most important attribute of this patient's presentation thus far is the resolution of symptoms when restricted from any oral intake. When considering the work-up for diarrhea it is important to distinguish between an osmotic diarrhea and a secretory diarrhea because the differential diagnosis between the 2 is drastically different. With an osmotic diarrhea, the intestinal mucosa is oftentimes damaged and cannot digest and blot nutrients. In a special case of osmotic diarrhea, saccharide malabsorption, there may be no directly damage to intestinal mucosa but rather the absenteeism of necessary transporters for the absorption of monosaccharides or the congenital absenteeism of enzymes needed to break down complex carbohydrates. Considering of this, an osmotic gradient is established that drives water into the lumen, leading to diarrhea. In contrast, a secretory diarrhea occurs because the intestinal epithelial cells are turned into a state of agile secretion leading to agile send of ions and water into the lumen of the intestine. Secretory diarrhea demonstrates normal stool osmolality and an ion gap < 50 mOsm/kg (calculated past subtracting twice the Na plus K ions from the measured stool osmolality). In contrast, osmotic diarrhea has normal to increased stool osmolality and an ion gap > 100 mOsm/kg, with most of the particles in the stool represented by nonionic substances. The differential diagnosis for secretory diarrhea includes several infectious agents, including toxin-producing bacteria (Vibrio cholerae is well-nigh mutual worldwide); neuroendocrine-secreting tumors; and a congenital defect in the send of chloride, congenital chloridorrhea.

   In this nowadays case, based on the patient's history of resolution of symptoms when enteric feedings were removed, an osmotic diarrhea was suspected. Additional testing, including stool and serum osmolality likewise as stool electrolytes, could be performed if the diagnosis is in question. When because chronic diarrhea of infancy secondary to an osmotic process, ane should consider several diagnoses. An infectious agent, either viral or bacterial, can cause impairment to the intestinal mucosal lining and produce a protracted diarrheal affliction. Milk protein allergy, which often presents from a few days to a few weeks later on the introduction of milk protein into the diet, can cause symptoms ranging from irritability and hematochezia to diarrhea and vomiting. Casein-hydrolysate formulas are usually therapeutic, although severely affected infants may require an amino acid-based formula. Breast-fed infants, despite no straight exposure to cow'south milk protein, can nonetheless develop an allergy as the milk protein is expressed in breast milk. Other less common causes, including saccharide intolerance from congenital enzymatic abnormalities or transporter defects, microvillus inclusion illness, and autoimmune enteropathy, should also be considered.

2. What studies should be ordered next?

   The patient had an osmotic diarrhea with a negative work-up for infectious agents, endoscopy that showed no testify of inflammation or other abnormalities, and stool that was positive for reducing substances with an acidic pH. Of the diagnoses that remain, sugar intolerance is the well-nigh likely. With this grouping of disorders, endoscopy is macroscopically and microscopically normal. Instead, i needs to consider the use of disaccharidase testing at the fourth dimension of endoscopy, or hydrogen breath testing after ingestion of the suspected offending carbohydrate.

Results of Farther Piece of work-upwards

The patient underwent hydrogen breath testing using glucose equally the substrate. The Figure shows the results.

• 3.

  How would you lot translate the results of this written report?

  The figure demonstrates the findings of a positive hydrogen breath test in an infant. The peaks of hydrogen production correlate with the exposure of glucose to colonic bacteria, causing an abnormal rise in the product of hydrogen. In this example, the peak is early on considering of the rapid transit time seen in infants. Based on the results of this test, the diagnosis of congenital glucose-galactose malabsorption with a transporter defect was fabricated. The patient was placed on a carbohydrate-costless formula and fructose with resolution of his diarrhea and subsequent adept growth.

Give-and-take

Built glucose-galactose malabsorption represents a rare, autosomal recessive disorder. Fewer than 300 patients take been identified worldwide. The status occurs because of defects of the enterocyte glucose-galactose transporter. Normally, lactose, the carbohydrate found in chest milk and infant formulas, is cleaved downwardly into the hexose sugars, glucose and galactose, along the brush border of intestinal mucosa. These 2 sugars are then cotransported into cells via a Na-glucose cotransporter known as SGLT-1. The primary structure of the transporter was commencement identified in 1987 in rabbit small-scale intestine. The human cotransporter was then found, and the gene responsible for the SGLT-1 transporter was identified and cloned in 1988. The gene maps to chromosome 22. Since its identification, more than thirty different mutations in this gene have been constitute to crusade abnormalities in the cotransporter. Because of the wide number of mutations at present known, genetic testing for defects is hard, leaving clinicians to rely on clinical testing, including the glucose or galactose hydrogen breath test as the diagnostic test of choice.

Therapy for this disorder is aimed at the complete elimination of glucose and galactose from the diet. This tin be achieved in infancy with carbohydrate-costless formulas and subsequently in life with careful attention to dietary saccharide ingestion. It is interesting to note that the monosaccharide fructose has a separate transporter (GLUT5) along the intestinal brush border and is non affected in this disorder. All iii of these monosaccharides – glucose, galactose, and fructose – are then brought across the contrary side of the intestinal cell via an boosted transporter (GLUT2). Because of the reliance on a divide transporter, the ingestion of fructose causes no symptoms and it can be used every bit a source of carbohydrates in the diet.

No cure for glucose/galactose transporter defects currently exists, and no tolerance to the ii monosaccharides develops. However, with conscientious monitoring of carbohydrate intake that restricts glucose, galactose, or complex carbohydrates that contain either glucose or galactose such as lactose, sucrose, or starches, the condition is both treatable and manageable.

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Glucose hydrogen breath exam.

Contributor Information

Douglas Jacobstein, Division of Gastroenterology & Nutrition, The Children'south Hospital of Philadelphia, Academy of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.

Jonathan Markowitz, Sectionalisation of Gastroenterology & Nutrition, The Children'south Hospital of Philadelphia, Academy of Pennsylvania Schoolhouse of Medicine, Philadelphia, Pennsylvania.

Petar Mamula, Partitioning of Gastroenterology & Nutrition; Endoscopy Suite, The Children's Infirmary of Philadelphia, Philadelphia, Pennsylvania; University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.

David A. Piccoli, Division of Gastroenterology & Diet, The Children'southward Infirmary of Philadelphia, Philadelphia, Pennsylvania; University of Pennsylvania Schoolhouse of Medicine, Philadelphia, Pennsylvania.

Suggested Readings

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Source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1681397/

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