Congenital Diarrhea

By:

Dr. Inayat Ullah

PGY-III Paediatrics

Definition

Diarrhea

In children, a stool output that

exceeds 10 mL/kg/day is considered diarrhea.

A more practical definition

is that diarrhea is present when stools increase in frequency, fluidity (water content), or volume, in comparison with the previously

established “normal” pattern.

Congenital diarrheas present at birth or shortly thereafter or may remain unrecognized.

Osmotic diarrhea

MALABSORPTION OF WATER-SOLUBLE NUTRIENTS which pulls water into bowel lumen.

-Glucose-galactose malabsorption Congenital , Acquired Disaccharidase deficiencies.

Toddler’s diarrhea CNSDI

Reduced absorptive surface area e.g. celiac disease

• stops with fasting, has a low pH, positive for reducing substances

Secretory diarrhea

• Intestinal mucosa directly secretes fluid and electrolytes into the stool and is the result of inflammation

• e.g. IBD Tufting enteropathy

• Congenital Chloride and sodium diarrhea

• Most diarrheal illnesses are a mixture of secretory and osmotic diarrheas.

Chronic Nonspecific Diarrhea (CNSD)

Background

• The most common form of persistent diarrhea in the first 3 years after birth

• The typical time of onset may range from 1–3 years of age and can last from infancy until age 5 years

• The role of ingested carbohydrates in CNSD has been emphasized in light of a typical toddler’s affection for fruit juices

Clinical Presentation

• May pass 4–10 loose bowel movements per day without blood or mucus

• Specific to CNSD; these patients pass stools only during waking hours – As the day progresses, stools become more watery and smaller in volume

• Undigested food remnants in the stool due short transit time of enteral contents

Management (CNSDI)

• Reassurance is the cornerstone of therapy for CNSD

• Parents should be reassured that their child is growing well and is healthy

• Fruit juice intake should be minimized or changed to types of juice with low sucrose and fructose loads

• Increase fat to encourage normal caloric intake and to slow intestinal transit time, not to restrict fiber, and to assure adequate but not overhydration

Diasaccharide Intolerance

Background

•Lactase deficiency is the most common type

Lactose intolerance

• Age of onset varies among populations

• African American children becoming lactose intolerant before age 5 years

• White children typically do not lose lactase function until after age 5 years

• Congenital lactase deficiency is a rare entity

Congenital Secretory Diarrhea

Congenital chloride diarrhea (CCD) and Congenital sodium diarrhea (CSD)

• Both diseases present before birth with polyhydramnios resulting from in uterodiarrhea

• May cause life-threatening dehydration and electrolyte disturbances

Secretory Diarrheas

Congenital chloride diarrhea (CCD)

• Severe hypochloremia , hypokalemia and hyponatremia Raised Renin aldosterone

• Metabolic alkalosis, Polyhydromnios

Fecal Cl > 90mmol/L

Severe life threatening diarrhea in 1st week of life.

Congenital sodium diarrhea (CSD)

• Hyponatremia with alkaline stools (Fecal pH>7.5)

• Metabolic acidosis, polyhydromnios

Secretory Diarrhea

• Diagnosis• Stool electrolytes often aid in the diagnosis • Genetic testing can identify defective chloride transport

genes in some patients with CCD• Management • Aggressive fluid and electrolyte replacement is the

mainstay of therapy for both diseases• In CCD Early diagnosis replacement of KCl+NACl (Cl doses

of 6-8mmol/kg/day for infants and 3-4 for older children)• Orally PPI, Cholystyramin and butyrate can reduce diarrhea

severity.

Tufting Enteropathy

Background

• Tufting enteropathy, also known as intestinal epithelial dysplasia

Clinical presentation

• Presents in the first few months after birth

• Growth failure

• Intractable watery diarrhea

• Significant electrolyte abnormalities

Tufting Enteropathy (cont’d)

Diagnosis

• Histology of the small bowel reveals – Villous atrophy and crypt hyperplasia without significant inflammation – Closely packed enterocytes appear to create focal epithelial “tufts”

Tufting Enteropathy (cont’d)

Management

• Affected infants typically become dependent on parenteral nutrition to allow normal growth and development

• Small bowel transplant is potentially curative, but the associated morbidity and mortality are high

Microvillus Inclusion Disease

Background

• Rare cause of chronic Secretory diarrhea in the neonatal period

Clinical presentation

• Diarrhea so watery that it may be mistaken for urine

• Contrary to what occurs in CCD and CSD, polyhydramnios typically is not seen

Microvillus Inclusion Disease

Diagnosis

• Small bowel villous atrophy but without inflammation or expected crypt hyperplasia, and “microvillous inclusions”

Management

• Aggressive intravenous rehydration and electrolyte replacement are necessary to maintain life during infancy

• Lifelong parenteral nutrition in most cases

Gluten-Sensitive Enteropathy (Celiac disease)

Background • Small intestine mucosal damage secondary to

exposure to specific dietary protein (wheat products)

• Wheat products, e.g., Cereal grains that includes wheat, rye, and barley

• Pure oats are not considered an offending agentAssociated diseases, e.g., • Diabetes mellitus type1

• Down syndrome • Williams syndrome • Turner • Thyroiditis • Selective IgA deficiency

Clinical presentation Celiac Disease

• Diarrhea (the most common symptom) stool is pale, loose, and offensive

• Abdominal distension • FTT is less common • Muscle wasting and loss of muscular power • Hypotonia • Dermatitis herpetiformis• Dental enamel defects • Short stature • Delayed puberty • Osteoporosis • Persistent iron deficiency anemia

Diagnosis Celiac Disease

Anti-tissue transglutaminase antibody test is most sensitive and specific diagnostic blood test

• Anti-endomysial IgA antibodies

• The above two test can be falsely negative in IgA deficiency

• Definitive diagnosis is small intestinal biopsy showing flattening of the small intestinal mucosa

algorithm

Management Celiac Disease

• Lifelong exclusion of gluten, no wheat, barley, or rye in diet

• Follow-up with tissue transglutaminase level 6 months after withdrawal to document reduction in antibodies

• Patients response very well to diet restriction • Any small amount of gluten can cause mucosal

damage • Follow-up with dietitian is very important • Follow up the growth curve

Cystic fibrosis

•AR disorder.

•Most patients have respiratory symptoms as recurrent pneumonia, and adenoid.

•Those patients have pancreatic insufficiency which lead to diarrhea with greasy stool.

•Failure to thrive.

•Genetic diagnosis and sweat chloride test are the main investgations.

•Management is Multidisciplinary.

Acrodermatitis enteropathicaa

•AR disorder.•Presented with peri-oral rash, chronic diarrhea, recurrent infection and napkin rash resistant to treatment.•Usually starts at the time of weaning.•Tent red hair and alopecia.•Diagnosis•Serum Zinc in the blood are severely low•Management• Zinc supplementation.

Intestinal Lymphangiectasia

Background

• Obstruction of lymphatic drainage of the intestine

Associated condition

• Turner syndrome

• Noonan syndrome

• Klippel–Trenaunay

• Weber syndrome

• Heart failure

Intestinal Lymphangiectasia

Clinical presentation • Protein losing enteropathy is the main cause of the

clinical manifestation of this diseaseDiagnosis• Presence of Alpha-1 antitrypsin in stool • Direct measurement of alpha-1 antitrypsin clearance

from plasmaManagement• Replace long-chain fat with medium-chain Triglycerides

in diet or formula and treatment of the causeSurgical resection if patchy intestinal involvement.

Abetalipoprotienemia

• AR• Disorder of lipoprotien metabolism.• Severe fat malabsorption, failure to thrive.• Pale, foul smelling and bulky stools.• Distended abdomen, absent DTR’s (Peripheral

Neuropathy)• Slow IQ• Ataxia, loss of position and vibration later on and

retinitis pigmentosa in adults without vit-E supplements

Abetalipoprotienemia

• Diagnosis

• Acanthocytes in smear

• Serum cholestrol low (<50mg/dl) TG(<20mg/dl), chylomicrons and VLDL not detectable.

• TG accumulation in villous enterocytes in duodenum

• Rickets secodary to steatorrhea induced Ca losses

Abetalipoprotienemia

• Treatment

• Not specific

• Fat soluble vitamins supplements (A,D,E&K)

• Vitamin-E 100-200mg/kg/24 hours arrest neurological and retinal degeneration.

• MCTs can be used to supplement fat intake.

Immunodeficiency States Associated with Chronic Diarrhea

• Children with primary immunodeficiency states often present with chronic diarrhea

• X-linked agammaglobulinemia may result in diarrhea secondary to – Chronic rotaviralinfections – Recurrent giardiasis

• IgA deficiency may lead to – Recurrent giardiasis – Bacterial overgrowth – Associated with a 10- to 20-fold increased incidence of celiac disease

Immunodeficiency States Associated with

Chronic Diarrhea

• Hyper-IgM syndrome – Chronic diarrhea

• Human immunodeficiency virus syndromes –Cryptosporidium parvum

• Common variable immunodeficiency lead to –Diarrhea – Significant malabsorption

• Neonatal insulin-dependent diabetes with intractable diarrhea should raise suspicion for –Syndrome of immune dysregulation –Polyendocrinopathy – Enteropathy (autoimmune)

Approach

• History • Onset• Character and volume of stools• Assoc symptoms e.g. blood, fever, & wt loss,

respiratory symptoms.• Factors improving and worsening the diarrhea• History of polyhydromnios• Assoc with specific food,• Family personal history• Recurrent symptoms/Infections.

• Examination

• General + nutritional status MUAC, dehydration

• Caloric intake quantification

• Abd distension, tenderness, bowel sounds, blood in stool, fecal mass, and anal sphincter tone

• Assoc symptoms asthma, eczema,

• Extra intestinal symptoms, arthritis, diabetes,

• Skin lesions

• Facial dysmorphism, hair changes.

Investigations

• Microbiology

• R/E for protozoa, virus, parasites and bacteria

• Fecal calprotectin, lactoferrin assay, celiac serology

• Mucosal biopsy after GI consultation

• Imaging USG, X-Ray, Ba Meal VCE