Definition: Inability of the body to use phenylalanine, leading to its buildup and increased ketones, resulting in ketoacidosis. Excessive phenylalanine can cause brain damage.
Cause: Autosomal recessive hereditary defect of metabolism due to impaired ability to metabolize phenylalanine.
Pathophysiology: Deficiency of PAH (phenylalanine hydroxylase) leads to increased plasma phenylalanine levels (>1200 \, \mu mol/L; reference range is 35-90 \, \mu mol/L) and excretion of phenylpyruvic acid (approximately 1 \, g/d) and phenylacetic acid in the urine. PAH catalyzes the conversion of L-phenylalanine to L-tyrosine.
Statistics & Incidence:
Prevalence: Approximately 4 cases per 100,000 individuals.
Incidence: 350 cases per million live births.
Most commonly diagnosed through newborn screening.
Common in Whites and Asians.
Signs and Symptoms:
Most appear well at birth.
Blue eyes
Blond hair (impairment of melanin synthesis)
Fair skin
Eczema (most common manifestation)
Severe mental retardation
Musty, mousy odor
Epilepsy
Eye abnormalities
Diet: Low protein for life; low phenylalanine formula (Lofenalac).
Diagnostic Tests:
Guthrie Test (blood)
Phenystik’s Test (urine)
Management:
Phenylalanine-free formulas
Restricted diet
Amino acid supplementation
Avoidance of Aspartame
Nursing Management:
No Aspartame for life (alternative: Stevia plant).
Definition: Most common enzymatic deficiency worldwide, also known as Favism.
Function: G6PD is active in all cell types and involved in carbohydrate processing; it plays a critical role in red blood cells, leading to premature destruction of red blood cells.
Genetics: X-linked recessive disorder, almost exclusively manifested in men, with variations in the G6PD gene mutation.
Signs and Symptoms:
Hemolytic Anemia / Hemolysis
Jaundice
Kernicterus
Lysis Process of RBC: Premature destruction.
G6PD Variants:
Mediterranean Variant: Common in Africa, Italy, Greece.
African Variant: Common in Sub-Saharan Africa, Egypt, Middle East.
Diet: Beans, legumes, soy for life.
Things to avoid:
Antibiotics (Quinolones-Ciprofloxacin)
Malaria Meds (Primaquine)
Cancer Meds (Rasburicase)
Aspirin
Mothballs (Naphthalene)
Henna
Fava Beans (Legumes)
Milk: No soya milk / No breast milk = PROMIL
Galactosemia
Definition: A disorder of carbohydrate metabolism characterized by abnormal amounts of galactose in the blood (galactosemia) and urine (galactosuria).
Cause: Missing genes that produce the enzyme to break down galactose into glucose.
Genetics: Transmitted as an autosomal recessive trait.
Main Types:
Classic (Type 1) – most common
Galactokinase Deficiency (Type 2)
Galactose Epimerase Deficiency (Type 3)
Signs and Symptoms:
Usually starts when the baby begins breastfeeding.
Baby is normal at birth = No Symptoms
Vomiting
Jaundice
Dehydration & Wt. Loss
Cataract
Developmental Disabilities
Death
Diet: No Galactose for Life
Milk: No Breast Milk; Nutramigen is the Milk of Choice
Top 10 Foods with Highest Galactose Content:
D - Dulce de Leche
Y - Yoghurt
C - Cherries
H - Honey
C - Celery
K - Kiwi
H - Hamburger
M - Mozzarella
A - Avocado
P - Plums
Congenital Hypothyroidism
Definition: Thyroid hormone deficiency present at birth, resulting in inadequate thyroid hormone production in newborn infants.
Causes: Congenital absence of a thyroid gland or the inability of the thyroid gland to secrete thyroid hormone. Can occur due to an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency.
Absence of Thyroid Hormone: Stunted Physical Growth
Signs and Symptoms:
Severe Mitral regurgitation
Decreased activity – Often described as "good babies" because they rarely cry and sleep most of the time.
Large anterior fontanelle – Delayed closure.
Poor feeding and weight gain – Child mostly sleeps and rarely feeds, resulting in poor weight gain.
Small stature or poor growth – There is a delay in development, resulting in poor growth as one of the findings.
Jaundice – Result of accumulation of unconjugated bilirubin.
Diagnostics:
Newborn Screening
T4 Levels
Ultrasonography
Management:
Levothyroxine – only drug of choice
DIET-Dietary iodine supplementation for life
Nursing Management:
Maintain a stable weight – Collaborate with a dietician to determine the client's caloric needs; encourage the intake of foods rich in fiber; encourage a low-cholesterol, low-calorie, low-saturated-fat diet.
Learn more about the disease – Emphasize the importance of rest periods.
Reduce fatigue – Note daily energy patterns; schedule activities for periods when the client has the most energy; promote an environment conducive to relieving fatigue.
Congenital Adrenal Hyperplasia (CAH)
Definition: The enzyme 21-hydroxylase is not able to make enough hormones called cortisol and aldosterone = 21-hydroxylase deficiency (21-OHD). When 21-hydroxylase is not working, pieces that should be made into cortisol and aldosterone are turned into androgens instead.
Androgens: Male hormones, like testosterone, which are responsible for the development of traits typically seen in men.
Characteristics:
Hyperplasia of Adrenal Glands causing too high sex hormones
An endocrine die off causing severe Sodium loss
Main Types:
Classic CAH - This type is rarer and more serious. It's usually found by tests at birth or in early infancy.
Non-Classic CAH - This type is milder and more common. It may not be found until childhood or early adulthood.
Signs and Symptoms:
Dehydration, Abnormally High Levels of Sex Hormones
Complication: Baby will die in 7-14 days
Signs of Classic Salt-Wasting CAH:
Male-like genitals in girls
Poor feeding
Sleeping longer or more often (lethargy)
Vomiting
Weight loss or failure to gain weight normally
Gets upset easily (irritability)
Shock
Rapid heart rate
Signs of Classic Simple-Virilizing Form of CAH:
Early onset of body hair
Male-like genitals in girls
Small testicles in boys
Large penis in boys
Management:
Hydrocortisone to replace the missing cortisol
Fludrocortisone to maintain proper salt and fluid levels (in the salt-wasting form)
Salt (sodium chloride)
Surgery may be considered in some females with genital or urinary problems
Maple Syrup Urine Disease (MSUD)
Definition:
An autosomal recessive disease emerging from mutations of genes for enzymes that lead to the biochemical steps of production of glucocorticoids, mineralocorticoids, or sex steroids from cholesterol by the adrenal glands.
A life-threatening metabolic disorder in which the body can’t function normally because it can’t properly convert food to energy
Cause: People with MSUD either don’t have the needed enzymes at all, have the specific enzymes but they don’t work, or don’t have enough of the specific enzyme to break down three particular amino acids – leucine, isoleucine, and valine.
Branched Chain ketoaciduria
Inability of the body to process amino acids
Inability of the body to break down certain parts of protein
Leucine, Isoleucine, valine leads to excessive build-up of levels, resulting in Encephalopathy and progressive neurodegeneration
Main Types:
Classic
Intermediate
Intermittent
Thiamine-Responsive
Signs and Symptoms:
Sweet smelling urine, sweat, earwax
Red-Brown Colored Urine
Developmental Delay
Seizures
Coma
Death
Management:
Diet low in 3 amino acids for Life
Strict diet for life
Control of 3 amino acids level
When 3 Levels begin to rise, HOSPITALIZE ASAP
Nursing Management:
Give Glucose and Insulin IV – to adjust levels of amino acids
Parenteral Nutrition or NGT Feeding
Hemodialysis for blood filtration
Monitor for brain swelling, infection, and amino acid levels
Hydrocephalus
Definition: A neurological disorder caused by an abnormal buildup of cerebrospinal fluid in the ventricles (cavities) deep within the brain, leading to abnormal enlargement of the head.
Signs and Symptoms:
Frontal Enlargement
Increased intracranial pressure
Infant:
V – Vomiting (Non Projectile)
I - Irritability
P – Poor Feeding
B – Bulging of Fontanelles
A – Altered level of consciousness
H – High Pitched Shrill Cry
S - Strabismus
Physiologic Strabismus: Normal due to the immaturity of the Ocular Muscles, disappears by 3-4 months
Toddler:
Severe Headache
Headache + Projectile Vomit
L – Lethargy
A – Ataxia
A – Altered level of consciousness
P – Pupil Dilation
Mode of Care: Ventriculoperitoneal Shunt
1st 24 hrs P VPS: FOB / Supine Position
48-72 hrs P VPS: Position in low Fowler’s / Semi Fowler
Drug of Choice: Acetazolamide (Diamox) - Less production of Cerebrospinal fluid (CSF)
Types of shunts:
Ventriculoperitoneal shunt
A cerebral shunt that drains excess cerebrospinal fluid (CSF) when there is an obstruction in the normal outflow or there is decreased absorption of the fluid.
Ventriculoatrial shunt (from ventricles to left atrium)
Enables cerebrospinal fluid (CSF) to flow from the cerebral ventricular system to the atrium of the heart.
Pediatric Gastrointestinal Disorders
Celiac Disease
Definition: AKA Gluten Enteropathy, Gluten Malabsorption, Celiac Sprue. An autoimmune GI disorder where when gluten is ingested, which is found in wheat barley, grains, and rye products, causes damage to the small intestine, specifically the intestinal villi.
Cause: Inability of the body to digest the gluten component GLIADIN due to the body is unable to make an enzyme that digests gliadin. In response, the body forms a gliadin complex = PEPTIDES resulting in the attack of the enzyme called TRANSGLUTAMINASE. Transglutaminase presence triggers inflammation process and release of CYTOKINES = Destruction of Intestinal Villi
Affected Area: Most commonly affects the small intestine
Dietary Restriction: No BROW for life.
Pathophysiology: The Gliadin reacts with TTG (Tissue Transglutaminase) enzyme and antibodies are formed by the immune cells to fight the gliadin. The antibodies formed are Tissue Transglutaminase Antibodies (tTg), Antibody IgA, Endomysial antibody (EMAs).
Cause of Celiac Disease: Celiac disease is caused by an abnormal immune response to gluten, found in wheat, barley, rye, and other grains. The immune system mistakenly identifies gluten as a threat, producing antibodies that attack the small intestine. The exact cause is unknown, but research suggests it only occurs in people with certain genetic mutations. Other factors like viral infections, surgery, pregnancy, emotional stress, and environmental triggers may also trigger the disease.
Signs and Symptoms:
* M – Mouth Ulcers
* A - Anemia
* L – Lactose Intolerance
* N – Nausea & Vomiting
* O – Osteo Changes
* U – Unexplained slow growth
* R - Rashes
* I - Irritable
* S – Steatorrhea
* H – Hair Loss
* E – dEcay of teeth
* D – Diarrhea and Abd Cramping
Complications:
* No Iron = Anemia
* No Vitamin K = Bleeding
* No Calcium = Osteomalacia
* No CHON = Chon Deficiency
* No Fats = Steatorrhea
Diagnostics:
* Tissue Transglutaminase Antibodies (tTG-IgA)
* Immunoglobulin A serum
* Immunoglobulin A Endomysial antibody (EMA)
* Complete Blood Count for Anemia
* Chemical 7 – Calcium
* Bone Mineral Density
Diet: Gluten-Free for life = No BROW (Bread, Ryes, Oats, Wheat); substitute rice and corn.
HIGH GLUTEN FOODS: Wheat Barley, Malt, Beer, Pasta Noodles, Rye, Seasonings, soups, anything with breading that doesn’t say Gluten Free, anything that looks like bread: croutons, crackers, breads, dough, cookies, most cereals, oats unless they say Gluten Free. Note: Most processed foods have gluten
Management:
Only treatment is to continue a gluten-free diet to avoid malignancy
Correction of Vitamins and mineral deficiency to prevent complications
Pyloric Stenosis
Definition: Hypertrophy and hyperplasia of the pylorus muscle leading to difficulty in stomach emptying. Progressive thickening of the pylorus muscle that leads to narrowing.
Age of Onset: Common among infants at 6 months old. Earliest onset is vomiting at 4-6 weeks old almost immediately.
Vomiting: Vomiting grows increasingly forceful until it reaches PROJECTILE VOMITING
Cause of Pyloric Stenosis: The exact cause of pyloric stenosis is unknown, but it is believed to be multifactorial, involving both genetic and environmental factors.
It is not present at birth and likely develops in the weeks after birth.
Genetic factors play a role, as pyloric stenosis is more common in certain families. If one child has pyloric stenosis, future siblings have an increased risk.
Environmental factors may also contribute, but have not been clearly identified.
Premature birth, maternal smoking during pregnancy, and early antibiotic use in infants are associated with an increased risk of pyloric stenosis. Pyloric stenosis involves a thickening of the pyloric muscle, which is the ring of muscle between the stomach and small intestineThis thickening narrows the opening, preventing food from passing from the stomach into the intestines.
Signs and Symptoms:
Palpable Olive shaped mass on right upper quadrant
Increased Abdominal Distention
Vomiting – Non-bile, Acid vomit due to HCl + undigested food + streaks of bloods and Mucus
Visible peristaltic wave on left to right abdominal
Dehydration
Metabolic Alkalosis
Hypochloremia
Hypokalemia
Starvation
Diagnostics:
Watching the infant drink
Round & firm sphincter
Olive shaped mass on right upper quadrant
Peristaltic wave from left to right abdominal
X-Ray with Barium Swallow
Ultrasonography = hypertrophied Pylorus
Endoscopy – direct visualization
Management:
Surgical of Choice (Pyloromyotomy)
Correction of Electrolyte Imbalance
Monitor for Tetany
Small intakes of fluid post-op to prevent adhesion
Prevent distention of abdominal
Weight Daily
Measure abdominal
Monitor Intake and Output
Increase Kcal in Diet
Maintain Hydration
Intestinal Intussusception
Definition: Invagination or telescoping of one portion of the intestine into another
Age of Onset: Mostly occurs in the 2nd half of the 1st year of life.
Cause: Idiopathic cause but with considered factors.; most common point of invagination is at the juncture of the distal ileum and the proximal colon
Signs and Symptoms:
Sudden drawing up of legs with crying as if in severe pain
Vomiting - bilious
Symptom-free and Happy after episode of peristaltic wave
Episode every 15-20 mins
Red currant jelly stool due to blood and mucus
Abdominal distention
If with necrosis – signs and symptoms of peritonitis
Abdominal guarding
Diagnostics:
Abdominal X-Ray with Barium Swallow
Ultrasonography
Managements:
Reduction of Intussusception thru Surgery
Elimination of Factors if present
Prevention of necrosis
Nursing Responsibility:
Monitor the infant - watch out for re-intussusception for 24 hours
Hirschsprung Disease
Definition: Absence of nerve cells = Ganglion cells means no peristaltic wave in the section of the bowel = bowel impaction; AKA Aganglionic Megacolon. No Ganglion cells in the muscle of a section of the intestines. Ganglion cells connect the nervous system and are responsible for the peristaltic waves Absence of nerve cells = Ganglion cells means no peristaltic wave in the section of the bowel = bowel impaction
Mechanism: Chronic constipation occurs with no fecal movement, resulting in flat thin stools/Pencil-like stool/Ribbon-like stool.
Signs & Symptoms:
Appears 6-12 months
Infants appear thin and malnourished
History of no Bowel Movement x 1 week
Flat, thin, ribbon-like stools/ watery stool
Watery stools
Abdominal distention
Large protruding abdomen
Halitosis – bad breath
Vomiting – bilious: Greenish-brown
Diagnostics:
DRE (Digital Rectal Examination) = empty rectum
X-ray with Barium Enema
Ultrasound with contrast medium = narrow nerveless portion and distention of bowel
Rectal Biopsy – absence of ganglion cells
Nursing Responsibility:
Perform Barium enema and Ultrasound with contrast medium with caution
Management:
Dissection and removal of the affected portion = pull-through procedure
Surgery Of Choice performed in 2 stages:
Stage 1: Establishment of Temporary Colostomy
Stage 2: Bowel Repair at 12-18 months
Irritable Bowel Disease
Definition: A group of conditions causing chronic inflammation of the bowel Classified into Ulcerative Colitis or Crohn’s Disease
Crohn’s Disease:
Affects any part of the Gastrointestinal tract, or Mostly Upper Gastrointestinal tract.
Affects all layers of the bowel from mucosa to Serosa
Smoking is a precipitating factor
Crampy abdominal pain
Inflamed Areas do not absorb nutrients or fluid well = Dehydration and Malnutrition
Anemia/Hypoalbuminemia
DOC: Infliximab (Remicade)
With periods of exacerbations and remissions
Ulcerative Colitis:
Affects only the mucosal lining of the colon
Affects inner layer of the intestinal lining mucosa - submucosa
Abdominal Pain
Tenesmus
DOC: Infliximab (Remicade)
Related to colon carcinoma if chronic over 10 years
Yearly colonoscopy if chronic starting 8 years
With periods of exacerbations and remissions
Diagnosis:
Through Endoscopy (Crohn's) and Colonoscopy (Ulcerative)
Small Biopsy: Chronic Inflammation
MRI: for further Imaging
Meckel's Diverticulum
Definition:
Is an outpouching or bulge in the lower part of the small intestine
Presence of a congenital bulge that is the leftover of the umbilical cord
Characteristics:
Mostly common congenital defect of the Gastrointestinal
Occurs in 2% of all babies
Failure of the Vitelline duct to be absorbed at 7 weeks Age Of Gestation
Contains cells from stomach and pancreas that secrete acid = ulcers and bleeding
Signs & Symptoms: Appears in the 1st year of life – adulthood
Diverticulitis (inflammation Of the intestinal wall)
Diagnostics:
Technetium Scan: Radioactive Technetium is injected into the body absorbed by stomach cells in the diverticulum and will be detected by a special camera.
Colonoscopy: to look for blockages and the cause of bleeding
Wireless Capsule Endoscopy : Patient swallows small camera and can detect sources of bleeding in the UGIT.
Management:
Surgical removal of the Diverticulum Meckel’s Diverticulectomy
Treatment of bleeding and ulcers
Requires no treatment if asymptomatic.
Volvulus & Malrotation
Cause:
Malrotation is an abn of the bowel during 10 weeks Age Of Gestation.
Volvulus is a complication of malrotation when the blood supply to the bowel is cut off
Signs & Symptoms: May occur at any age, sometimes may be asymptomatic at all.
Bilious Vomiting
Abdominal Distention
Abdominal Pain
Failure to pass flatus / stool / Bloody stools
Tachycardia
Tachypnea
Shock
Diagnostics:
Upper GI series
Abdominal X-ray
Barium Enema
Management:
IV Fluids and Antibiotics: for prevention of DHN and Infection
NG Tube: prevent gas build-up in the stomach
Surgical Repair: Untwisting of the intestines
Ladd’s Procedure: to correct malrotation + appendectomy
Nursing Management:
Care of the Stoma / ostomy
Short Bowel Syndrome Management
Prevention of Infection
Proper Nutritional Counseling
Respiratory Disorder
Respiratory disorders are among the most common causes of illness and hospitalization in children. Respiratory dysfunction in children tends to be more serious than in adults because the lumens of a child’s respiratory tract are smaller and therefore more likely to become obstructed.
Respiratory Mucus:
Functions as a cleaning agent by moving invading organisms or other particles out of the lungs.
Newborns produce little respiratory mucus, which makes them more susceptible to respiratory infection than older children.
Excessive production of mucus in children up to 2 years of age can actually lead to obstruction because the bronchial lumens are so small in children of this age.
Physical Assessment:
Cough:A useful procedure to clear excess mucus or foreign bodies from the respiratory tract. It only becomes harmful and needs suppression when there is no mucus or debris to be expelled and the amount of coughing becomes exhausting.
Tachypnea: The first indicator of airway obstruction in young children.
Retractions:
Retraction of upper chest muscles (supraclavicular or suprasternal) suggests upper airway obstruction.
Retraction of intercostal or subcostal muscles suggests lower airway obstruction.
Restlessness: May be their only way of signaling that their respiratory obstruction is becoming acute and may be one of the first signs of airway obstruction
Cyanosis: Indicates hypoxia
Clubbing of Fingers: A change in the angle between the fingernail and nail bed because of increased capillary growth in the fingertips. Schamroth’s Window Test is the test to define clubbing, Lovibond’s Angle >165 degree, Common in heart disease, lung disease, and GI disease.
Pharyngitis
Definition: Infection and inflammation of the throat
Age of Onset: The peak incidence occurs between 4 and 7 years of age.
Etiology: It may be bacterial or viral in origin.
Viral Pharyngitis: Causative agent of pharyngitis is usually an adenovirus
Symptoms are generally mild: Sore throat, fever and general malaise.
On physical assessment, regional lymph nodes may be noticeably enlarged.
Laboratory studies will indicate an increased white blood cell count.
Streptococcal Pharyngitis: Group A beta-hemolytic streptococcus (GABHS) is the organism most frequently involved in bacterial pharyngitis in children. All streptococcal infections must be taken seriously because they can lead to cardiac and kidney damage from the accompanying autoimmune process.
Assessment:
Throat and palatine tonsils are usually markedly erythematous (bright red).
The tonsils are enlarged and there may be a white exudate in the tonsillar crypts.
Petechiae may be present on the palate.
High fever
Sore throat
Difficulty swallowing
Lethargy
Rheumatic Fever
Definition: An autoimmune disease that occurs as a reaction to a Group A beta-hemolytic streptococcal (GABHS) infection. Inflammation from the immune response leads to fibrin deposits on the endocardium and valves, in particular the mitral valve, as well as in the major body joints.
Age of Onset: It occurs most often in children 6 to 15 years of age, with a peak incidence at 8 years.
*The signs and symptoms are divided into MAJOR and MINOR symptoms according to the Jones criteria.
Note:The Jones Criteria are used to diagnose Rheumatic Fever.
Assessment: The patient must manifest the Following:
Maintained on bedrest only during the acute phase of illness or until congestive heart disease is not present.
*Pulse rate is a valuable sign of improvement, monitoring vital signs is essential during the acute phase. Obtaining an APICAL PULSE for a full minute is preferred.
A course of penicillin therapy or a single intramuscular injection of benzathine penicillin is used to eliminate group A beta-hemolytic streptococci completely.
Oral ibuprofen is prescribed to reduce inflammation and joint pain.
Corticosteroids may be prescribed to reduce inflammation in children who are not responding to ibuprofen therapy alone.
Valvular Replacement PRN (as needed) for severe damage.
Rheumatic Heart Disease
Definition: Is damage to one or more heart valves that remains after an episode of acute rheumatic fever (ARF) is resolved. It is caused by an episode or recurrent episodes of ARF, where the heart has become inflamed. The heart valves can remain stretched and/or scarred, and normal blood flow through damaged valves is interrupted. Blood may flow backward through stretched valves that do not close properly, or may be blocked due to scarred valves not opening properly.
When the heart is damaged in this way, the heart valves are unable to function adequately, and heart surgery may be required.
Kawasaki Disease
Definition: Also known as Mucocutaneous Lymph Node Syndrome and Acute Systemic Vasculitis. Is a febrile, multisystem disorder that occurs almost exclusively in children before the age of puberty. The peak incidence is in boys under 4 years of age. The incidence is higher in late winter and spring. Vasculitis (inflammation of blood vessels) is the principal (and life-threatening) finding because it can lead to formation of aneurysm and myocardial infarction. Cause of Kawasaki disease is unknown, but it apparently develops in genetically predisposed individuals after exposure to an as-yet-unidentified infectious agent.
Assessment
Acute Phase (Stage I)
*High fever that does not respond to antipyretics.
The child acts lethargic or irritable and may have reddened and swollen hands and feet.
Bulbar mucous membranes of the eyes become inflamed (conjunctivitis) and the child develops a “strawberry” tongue and red, cracked lips.
Rashes occur, often confined to the diaper area.
Cervical lymph nodes become enlarged.
Joints may swell and redden, simulating an arthritic process.
*White blood cell count and the ESR are both elevated.
Convalescent Phase (Stage II)
*bBegins at about the 25th day and lasts until 40 days.
Stage III lasts from 40 days until the ESR returns to normal. Note: To be diagnosed with Kawasaki disease, a child must manifest fever and four of the typical symptoms shown in the picture
Therapeutic Management:
Administration of acetylsalicylic acid (aspirin) or ibuprofen decreases inflammation and blocks platelet aggregation.
Abciximab is a platelet receptor inhibitor specific for Kawasaki disease
IV immune globulin (IVIG) can also be administered to reduce the immune response.
Nursing Management:
Monitor for Signs and Symptoms of Heart Failure
Admin. Meds As Ordered
Provide Additional Comfort Measures
Protect Edematous areas from pressure
Apply Lip Balm Products
Encourage Increase of oral fluid intake
Maintain Oral Care
Provide soft, non-irritating food
Cystic Fibrosis
Definition: An autosomal recessive disorder affecting chromosome 7 which leads to exocrine gland dysfunction affecting the Lungs, Pancreas, Reproductive System, and sweat glands.Cystic Fibrosis is inherited from an autosomal recessive trait.. Most commonly occurs in white children. Affected males may be unable to reproduce secondary to persisting plugging and blocking of the Vas Deferens. Affected females may have thickened cervical mucus and may prevent sperm motility
Assessment
Celiac Syndrome: Steatorrhea, protuberant abdomen, signs of malnutrition (inability of body to digest food because of plugging in exocrine ducts)
Fat-Soluble vitamin deficiencies (altered lipase secretion with pancreatic movement)
Lungs: Thick Mucus Secretion, clubbing of fingers, enlarged AP: L diameter
Reproductive System: Thickened Secretions for both sexes
*Sweat Glands: Elevated Chloride levels and salt on sweat