• Coeliac disease( Gluten-Sensitive Enteropathy GSE )
• It is an enteropathy in which the gliadin fraction of gluten provokes a damaging immunological response in the proximal small intestinal mucosa. As a result, Villi become progressively shorter & then absent, leaving a flat mucosa.• The incidence 1:3000. It is an autoimmune condition because of the presence of anti–TG2 antibodies & the association with other autoimmune diseases (thyroid, liver, diabetes, adrenal).
• It is triggered by the ingestion of wheat gluten and related prolamines from rye & barley.
• A genetic predilection is suggested by the family aggregation & the concordance in monozygotic twins, which approaches 100% but environmental factors might affect . Prolonged breastfeeding has been associated with ↓ incidence of symptomatic disease.
• classical presentation is at 8-24 months of life with:
• FTT following introduction of gluten in cereals
• General irritability
• Abnormal stools(steatorrheal i.e. offensive greasy or not)
• Abdominal distension and buttock wasting
• Increasingly, children may present in later childhood with:
• anemia (iron and/or folate deficiency), growth failure or short stature, with little or no GIT symptoms.
• Occasionally constipation, rectal prolapse, or intussusception.
Celiac patient
• Diagnosis :
• Serologic tests have a crucial role in DxIgA anti- tissue transglutaminase TG2 [sensitivity is ˷ 87%, specificity is ˷ 95%).
Some 10% of pts who diagnosed earlier than 2 yr of age show absence of IgA anti-TG2. For them, the measurement of :
serum antigliadin Ab is generally advised.
A problem with serology is represented by the association of celiac disease with IgA deficiency. Serum IgA should always be checked, & in this case , IgG anti-endomysium, or TG2 should be sought.
• Confirmation depends upon:
• demonstration of a flat mucosa on duodenal biopsy(At least 4 fragments should be obtained from the descending part of the duodenum and at least 1 from the duodenal bulb) followed by the resolution of symptoms & catch-up growth upon gluten withdrawal.
{There is no place for the empirical use of a gluten-free diet as a diagnostic test for coeliac disease in the absence of a duodenal biopsy.}
• OTHER CAUSES OF FLAT MUCOSA:
• Tropical sprue
• Giardiasis
• Cow's milk & soy protein enteropathy…….etc
• Silent celiac disease( No apparent symptoms in spite of histological evidence of villous atrophy) is being increasingly recognized, mainly in asymptomatic 1st-degree relatives of celiac pts .
• Treatment :
• The only treatment for celiac disease is lifelong strict adherence to a gluten-free diet
• Screening for celiac disease is indicated in :
• DM type 1
• Down ,Turner & William syndromes
• Unexplained IDA
• 1st-degree relatives
• Autoimmune thyroiditis, Addison disease
• Dermatitis herpetiformis
• Short stature
• Unexplained osteoporosis
Cystic Fibrosis (CF)
• AR disorder, the most common life-limiting genetic disease.• The gene for CF, localized to the long arm of chrom 7 is mutated causing dysfunctional epithelial transport & leading to CF.
• The secretory and absorptive characters of epithelial cells are affected.
• Most pts with CF have exocrine pancreatic insufficiency early in life (if not at birth) as a result of inspissation of mucus in the pancreatic ducts.
• Maldigestion with 2ry malab steatorrhea & many 2ry def. states (vit A, D, E, & K) in untreated pt.
• This is in addition to chronic chest infection, finger clubbing & other respiratory symptoms.
• About 10% of pts are born with intestinal obstruction resulting from inspissated meconium (meconium ileus).
• In older patients, intestinal obstruction may occur (distal intestinal obstruction syndrome”DIOS”).
• DX
• a positive quantitative chloride sweat test (Cl− ≥ 60 mEq/L) in conjunction with 1 or more of the following features:
• typical chronic obstructive pulmonary disease
• documented exocrine pancreatic insufficiency
• a positive family history.
• Newborn Screening:
• immunoreactive trypsinogen results & limited DNA testing on blood spots, which are then coupled with confirmatory sweat analysis.• Rx of Intestinal Complications:
• pancreatic enzyme replacement
• When meconium ileus is suspected, a NGT is placed for suction & the newborn is hydrated. In many cases, gastrografin enemas with reflux of contrast material into the ileum not only confirm the Dx but have also resulted in the passage of a meconium plug and clearing of the obstruction.
Constipation
• Any definition of constipation is relative & depends on stool consistency, stool frequency, & difficulty in passing the stool.• A normal child might have a soft stool only every 2nd or 3rd day without difficulty; this is not constipation.
• A hard stool passed with difficulty every 3rd day should be treated as constipation.
• Constipation can arise from defects either in filling or emptying the rectum . other definitions( Passage of hard pebble like , Straining or painful defecation).
• DDx:
• Functional constipation
• Anal & rectal diso.( anal fissure,anal stenosis, Imperf. anus…)
• Neurological/ neuromuscular( Hirschsprung dis,CP,Down )
Metabolic &endocrine(hypothyroidism, hypoK,hyperCa,DI)
• Medications(anticholinergics, antihistamines, opiods….)
• Toxins(lead poisoning, botulism…..)• Miscellaneous( CMPA,celiac disease…..)
• Abdominal Pain
• is one of the most common symptoms in children & adolescents & is estimated to account for ˷ 5% of unscheduled office visits.• Recurrent abdominal pain (RAP) as a recognizable entity in childhood was first characterized by pain that occurs at least three times over a period of 3 or more months severely enough to affect daily activities in children older than 3 years.
• Causes of recurrent or chronic abdominal pain:
• Associated with upper GI symptoms:• GERD
• Peptic ulcer
• Crohn disease
• Henoch-Schonlein purpura
• Parasitic infection (Giardia)
• Motility disorders:
• Idiopathic gastroparesis
• Associated with altered bowel pattern:
• inflammatory bowel disorders(UC,CD idiopathic)
• Parasitic
• Bacterial (C. difficile, Yersinia, Campylobacter,TB)
• Lactose intolerance
• Chronic constipation
• Neoplasia (lymphoma)
• Psychiatric disorders such as anxiety
• Presenting as isolated paroxysmal abdominal pain:
• Obstructive disorders• Small bowel lymphoma
• Postsurgical adhesions
• Abdominal migraine
• Acute intermittent porphyria
• Vascular disorders
• Mental disorders (school phobia)
• Functional abdominal pain
• Others
• Chronic pancreatitis• Sickle cell crisis
• Chronic hepatitis
• Chronic cholecystitis & Choledochal cyst
• UPJ obstruction & Hydronephrosis
• Familial Mediterranean fever
Surgical:
Meckel's diverticulum
Recurrent intussusception
Internal, inguinal, or abdominal wall hernia
Chronic appendicitis
• The alarming signs & symptoms that suggest organic rather than functional causes for RAP:
• involuntary weight loss
• deceleration of linear growth
• GIT blood loss
• significant vomiting, chronic severe diarrhea
• persistent right upper or right lower quadrant pain
• unexplained fever
• family history of inflammatory bowel disease & etc..