Past Year SAQ Flashcards
1
Q
List 4 important investigations with expected findings to diagnose nephrotic syndrome
A
- FBC -> Note for raised TWC (indicating infection)
- Serum cholesterol -> Increased
- Liver function tests -> Serum albumin LOW
- Urinalysis -> Proteinuria
- Quantitative urinary protein excretion
-> Urine protein:creatinine ratio (>200mg/mmol)
-> 24 hour urine protein (>1g/m2/day) - Renal profile -> AKI
1
Q
2Y child brought to pediatric clinic with generalized edema and scrotal swelling. He voids frothy urine.
State the probable diagnosis and the pathophysiology of this condition.
A
Probable diagnosis: Nephrotic Syndrome
2
Q
Principle of treatment for nephrotic syndrome
A
Management of edematous state
1. Bed rest -> Usually not required
2. Corticosteroid
3. Diet
4. Antibiotic
5. Fluid status
6. Fluid restriction -> Not recommended unless in edematous state
7. Diuretics
8. Human albumin
9. Chart monitoring
Treat the complications
1. Hypovolemia -> Infuse salt poor albumin at 0.5 - 1.0g/kg/dose over 1 hour
2. Primary peritonitis -> Parenteral penicillin and a 3rd generation cephalosporin
3. Thrombosis -> Detailed investigations and adequate treatment with anticoagulation needed
3
Q
Complication of nephrotic syndrome
A
- Hypovolemia
- Thrombosis
- Infection
- Hypercholesterolemia
- Renal failure
4
Q
List 4 parameters/clinical features to assess the severity of bronchial asthma
A
- Daily symptoms
- Daily nocturnal symptoms
- Exacerbation affecting sleep and activity frequently
- PEFR or FEV1 <60%
- Exercise or activity induced asthma
5
Q
State 3 different types of drugs used to treat asthma in children with mode of action and side effects of drugs
A
- Beta 2 agonist (SALBUTAMOL/TERBUTALINE)
- MOA: Stimulate B2 receptor -> Activate adenylate cyclase via G protein and increase cAMP to increase PKA -> Bronchodilation
- ADR: Headache, palpitations, tachycardia, fine tremor, hypokalemia - Corticosteroid (PREDNISOLONE)
- MOA: Restrain clonal proliferation of T helper cells -> Decrease formation of cytokines
- Inhibit release of mediators from mast cells and reduce edema and inflammation
- ADR: Impaired growth, adrenal suppression and altered bone metabolism - Anti-leukotriene (MONTELUKAST)
- MOA: LTB4 is a potent chemoattractant for neutrophils and eosinophils
ADR: Headache, dyspepsia, Zileuton - liver toxicity - Anti-muscarinic agent (IPRATROPIUM BROMIDE)
- MOA: Competitively antagonize acetylcholine (Ach) binding to muscarinic receptors (M3) -> Reduce CGMP and cause bronchodilation and reduction of mediators’ release
- ADR: Dry mouth, constipation, urinary retention and unpleasant bitter taste
6
Q
Describe the management of the above child with moderate severity of acute asthma
A
- Treat the patient with NEBULIZED SALBUTAMOL or MDI salbutamol with a spacer (4-6 puffs if < 6 years and 8-12 puffs if > 6 years)
- ORAL PREDNISOLONE for 1 mg/kg/day for 3 to 5 days.
- Review after 20 minutes and if no improvement treat him as moderate
7
Q
A teenage mother gave birth to a baby at the gestational age of 32 weeks. The birth weight of the baby is 1.5 kg
State the probable diagnosis of the above baby
A
Preterm Low birth weight baby
8
Q
State the antenatal treatment that can improve respiratory problems after delivery
A
- Dexamethasone 4 doses of 6mg given IM 12 hours apart or
- Betamethasone 2 doses of 12mg given IM 24 hours apart
9
Q
A 9-month-old infant is brought to the pediatric clinic with a history of cyanosis while crying. On clinical examination, the infant has early clubbing of fingers and an ejection systolic murmur at LLSB. The probable diagnosis is Tetralogy of Fallot.
Classify congenital heart disease.
A
10
Q
State the chest X ray and ECG findings in TOF
A
- Chest X-ray -> BOOT-SHAPED HEART and OLIGEMIC LUNG FIELDS
- ECG – right ventricular hypertrophy (upright T waves in V1 and pure R waves with no S wave, right axis deviation and tall P wave
11
Q
Describe the management of hyper cyanotic spell in TOF
A
- Treat as a medical emergency
- Knee chest/ squatting position for the baby – the baby is on the mother’s shoulders with knees tucked up underneath
- Administer 100% oxygen
- Give parenteral morphine 0.1-0.2 mg/kg
- If all fails, give IV propranolol, volume expanders (crystalloids or colloids), IV sodium bicarbonate and heavy sedation, intubation and mechanical ventilation
- Emergency Blalock Taussig shunt
12
Q
State the palliative and corrective treatment of TOF
A
Blalock Taussig shunt is the treatment of choice for TOF
13
Q
A mother with gestational diabetes gave birth to a baby weighing 4kg. The baby started to have convulsions 2 hours after delivery. The blood glucose checked for the baby is 1.2 mmol/L
State the probable diagnosis
A
Hypoglycemia
14
Q
State the immediate treatment to control the convulsions for the hypoglycemic infant
A
IV bolus 10% dextrose 2-3 ml/kg bolus and IV dextrose 10% drip at 60-90 ml/kg/day
15
Q
List 4 problems/anomalies that hypoglycemic baby may develop
A
- Macrosomia
- Intrauterine growth restriction
- Respiratory distress syndrome
- Polycythemia
16
Q
Describe the reason why the baby got low blood glucose level
A
- Growth-restricted and preterm infants have poor glycogen stores
- Whereas the infants of a diabetic mother have sufficient glycogen stores, but hyperplasia of the islet cells in the pancreas causes high insulin levels
17
Q
A 7-year-old boy attends pediatric clinic with purpuric rashes on both upper and lower limbs and buttocks. On clinical examination, he has ankle pain and a tender abdomen
State the probable diagnosis
A
HENOCH SCHOLEIN PURPURA
18
Q
List 4 important investigations for HSP
A
- Urinalysis –> hematuria and proteinuria
- Platelet count -> normal or elevated
- WBC -> normal or elevated
- IgA level -> elevated
- BUN/Creatinine -> elevated
19
Q
State 2 serious complications and treatment for one of them
A
- Intussusception
- Ileus
- Protein-losing enteropathy
The treatment of intussusception is hydrostatic reduction with saline under ultrasound guidance
20
Q
A 40-year-old mother who is pregnant for 10 weeks, has a 2-year-old child with Down Syndrome. She is afraid the baby may have the same abnormalities.
Describe 3 antenatal tests to diagnose Downs Syndrome
A
- Triple test
- Nuchal translucency test
- Amniocentesis
21
Q
List 4 system-wise major problems that Down Syndrome children may develop
A
CVS
1. Congenital heart disease -> AVSD
GIT
1. Duodenal atresia
2. Pyloric stenosis
3. Tracheoesophageal fistula
4. Anorectal malformation
CNS
1. Congenital cataract
2. Glaucoma
3. Hearing impairment
4. Visual impairment
Endocrine
1. Hypothyroidism
2. Hypogonadism
22
Q
Describe 3 important differences between Down syndrome and Turner syndrome
A
23
Q
A newborn male weighing 3kg, is referred to the neonatal unit because he is found to be jaundiced at 18 hours of life. He was born by spontaneous vertex delivery at term following an uneventful pregnancy. He has been exclusively breastfed at 2-hour intervals. On examination, there is mild pallor but no cyanosis but edema. His skin is yellow to the nipples and no rashes detected. No abnormalities are detected in the respiratory, cardiovascular, abdomen, musculoskeletal, and central nervous system.
State any additional information needed to obtain from his mother to help determine the cause of his jaundice
A
Her blood group and RH status.
24
Based on the findings given, state the 2 most likely causes of jaundice in this baby. List 2 reasons
1. ABO incompatibility
2. RH incompatibility
3. G6PD deficiency
25
Describe 2 investigations and treatment for this newborn baby
Investigation:
1. Total serum bilirubin
2. Direct COOMBS test
3. Peripheral blood film
Treatment:
1. Phototherapy
26
A previously well 4-year-old boy presents with a 5-day history of generalized edema and frothy urine. On examination, he has periorbital, ankle, and gross scrotal edema. Examination of his chest reveals dullness on percussion and reduced breath sound in the right lower hemithorax on auscultation. The abdomen is slightly distended and shifting dullness is positive.
State the most likely diagnosis based on the above history and physical examination.
NEPHROTIC SYNDROME
27
State the probable cause of his chest findings (dullness and reduced breath sounds in the right lower hemithorax) in a nephrotic syndrome patient
PLEURAL EFFUSION
28
While staying in the hospital, a nephrotic syndrome child develops a sudden onset of severe abdominal pain. State 2 possible causes of his abdominal pain
1. Spontaneous bacterial peritonitis
2. Hypovolemia
29
Describe the management of a nephrotic syndrome patient
Management of edematous state
1. Bed rest -> Usually not required
2. Corticosteroid
3. Diet
4. Antibiotic
5. Fluid status
6. Fluid restriction -> Not recommended unless in edematous state
7. Diuretics
8. Human albumin
9. Chart monitoring
Treat the complications
1. Hypovolemia -> Infuse salt-poor albumin at 0.5 - 1.0g/kg/dose over 1 hour
2. Primary peritonitis -> Parenteral penicillin and a 3rd generation cephalosporin
3. Thrombosis -> Detailed investigations and adequate treatment with anticoagulation needed
Treatment of hypovolemia is
- Infuse salt-poor albumin at 0.5 to 1.0 g/kg dose over one hour.
- Assess daily by weight
- If severe, treat with IV 20% albumin infusion with furosemide*
*sunflower contradicts peads protocol
Treatment of spontaneous bacterial peritonitis is parenteral penicillin and third-generation cephalosporin
30
A 10-month-old girl is brought to the clinic because of loose motion on and off for three days. Her mother complained that these symptoms occurred at least once a month after the introduction of complementary feeding three months ago and that she was not gaining weight during these 3 months.
On examination, she appears well except for mild pallor and slightly thin brown hair. Her weight is 5.5 kg (below the 3rd percentile for his age), height is on the 10th centile and head circumference is on 10th percentile. No abnormalities are detected in her respiratory, cardiovascular, abdomen, or central nervous system.
State the information to be gathered from her mother to help determine the underlying cause.
1. Mothers exposure to teratogen and infection
2. Any history of chronic illness in the family
31
List the possible causes of poor weight gain and recurrent loose motion in this girl
32
Describe the management plan for this girl
Investigation for the cause:
1. Full blood count, LFT, RFT, Urine FEME, Karyotyping
Treatment:
- Correction of the underlying etiology if possible
- Enteral or parenteral feeding, follow up patient and monitor growth charts
33
An 18-month-old child with a history of birth asphyxia is referred to the clinic because of delayed walking. On examination of his both lower limbs, he has hypertonia, hyperreflexia, and positive Babinski sign on both sides. His upper limbs are otherwise normal
State the type of motor neuron lesion and the area of the brain involved
State the probable diagnosis
UMN lesion at pre-central motor cortex
Probable diagnosis: Cerebral palsy
34
Discuss the long-term management of this child
- It is a multidisciplinary approach.
1. Physiotherapy –> for better function and to prevent contracture
2. Occupational therapy –> for daily functioning
3. Speech therapy
4. Psychological and intellectual assessment
5. Orthopedics –> treatment for contractions
6. Medications –> for epilepsy and abnormal movement
7. Treatment of spasticity –> diazepam
8. ENT
9. Ophthalmologist
10. Hyoscine patch for drooling control
35
A 6-month-old infant is brought home by his pediatric clinic as his mother complains that he turns blue whenever he cries. He was born at term uneventfully. There was no neonatal problem and he was discharged home with his mother on the second day of life. On examination, his tongue and lips are cyanosed. There is an ejection systolic murmur which is heard loudest at the second intercostal space. Other systems are unremarkable.
Based on the findings above give the most likely diagnosis
TOF
36
List 3 investigations with expected findings to confirm the diagnosis
1. Chest x-ray –> BOOT-SHAPED heart, oligemic lung fields
2. ECG –> RIGHT VENTRICULAR HYPERTROPHY, right axis deviation, tall P waves
3. Echocardiogram – Shows pulmonary artery
37
State the immediate life-threatening complication of his underlying cardiac defect and its management.
HYPERCYANOTIC SPELL
- Treat as a medical emergency
- Knee chest/ squatting position for the baby – the baby is on the mother’s shoulders with knees tucked up underneath
- Administer 100% oxygen
- Give parenteral morphine 0.1-0.2 mg/kg
If all fails, give IV propranolol, volume expanders (crystalloids or colloids), IV sodium bicarbonate and heavy sedation, intubation, and mechanical ventilation
-> Emergency Blalock Taussig shunt
38
A 10-year-old girl attends a pediatric clinic with a repeated chest infection from infancy, chronic steatorrhea, nasal polyp, and rectal prolapse. She had meconium ileus in the neonatal period. Her fingers are clubbed. Her parents are first cousin
State the probable diagnosis
CYSTIC FIBROSIS
39
List 4 investigations to confirm the diagnosis
1. Sweat test
2. Immune reactive Trypsin IRT (Guthrie test)
3. Prenatal screening test for chorionic villous sampling
4. Genetic analysis
5. Imaging such as X-ray
6. Pulmonary function test
40
Describe the pathogenesis of the above condition
- CFTR is a CAMP-regulated Cl channel, regulating Cl and Na transport across the epithelial membrane.
- In the lungs, the normal CFTR causes the efflux of chloride ions across the apical membranes of submucosal glands.
- Sodium and water follow after it.
-> Abnormal CFTR causes the inability to secrete chloride, sodium, and water resulting in viscid secretions.
41
List the basic treatment for cystic fibrosis
- It is a multi-disciplinary approach
(For detail description, refer notes)
1. Physiotherapy
2. Pediatric Nutritionist
3. Treat the chest infection
4. Treat co-existing conditions/complications
42
A teenage mother gave birth to a baby at 32 weeks of gestation. The birth weight of the baby is 1.5kg. The baby developed yellow discoloration of skin and sclera on the 3rd day of life and started phototherapy
State the probable diagnosis of this baby
PHYSIOLOGICAL NEONATAL JAUNDICE
43
Describe 4 mechanism of yellowish discoloration in Physiological Neonatal Jaundice
- Marked physiological release of hemoglobin from the breakdown of red cells
- Red cells lifespan is shorter in infants
- The hepatic bilirubin mechanism is less efficient in the first few days of life
- Defective bilirubin excretion
44
State how phototherapy helps reduce neonatal jaundice
Light (wavelength 450 nm) from the blue-green band of the visible spectrum converts unconjugated bilirubin into a harmless water-soluble pigment excreted predominantly in the urine
45
List 4 important side effects of phototherapy
1. Retinal damage
2. Temperature instability
3. Fluid loss
4. Diarrhea
5. Skin rashes
6. Bronze baby syndrome
46
A 5-year-old child attends the emergency department with a cough, fever, and shortness of breath.
On clinical examination he looks toxic, on auscultation decreased air entry in his right chest with bronchial breathing and crepitation
State the probable diagnosis
Pneumonia
47
List 4 investigations with expected findings of the above diagnosis (Pneumonia)
1. Full blood count –> increased WBC
2. Increased ESR and CRP
3. Chest x-ray –> consolidation of the right lobe
4. Blood culture and sensitivity –> shows infection
5. Bronchoscopy with bronchoalveolar lavage
48
Describe the treatment plan and list 4 complication of pneumonia
49
A newborn weighing 3kg is delivered after prolonged 2nd stage labor. The baby is flaccid, cyanosed and there is no cry.
State the probable diagnosis
Birth Asphyxia
50
List 4 more conditions that will lead to this birth asphyxia
1. Premature labor
2. Intrauterine growth retardation
3. Meconium aspiration syndrome
4. Eclampsia
5. Antepartum haemorrhage
6. PPROM
51
Describe the stepwise resuscitation of a sick new-born
1. Airway and breathing –> suction gently and quickly using a syringe bulb or suction catheter. Start in the mouth and then the nose to prevent aspiration. Stimulate crying by rubbing
2. Temperature –> dry immediately and place the infant in the warmer or use droplight. Wrap it warmly.
3. Give oxygen
4. Bag mask ventilation
5. Chest compression –> if there is a heart rate < 60 bpm despite adequate ventilation with 100% oxygen for 30 seconds
6. Consider intubation the baby if
-> the baby is floppy, not crying, and preterm
-> heart rate < 100/min, gasping/ apnea
-> heart rate < 100/min despite PPV
heart rate < 60/min
-> no adequate chest rises and no clinical improvement
7. Medications - epinephrine, volume expanders. naloxone and sodium bicarbonate
52
A mother who was on anti-epileptic drugs during pregnancy gave birth to a baby with a big size head with a circumference 45 cm and a defect in the lumbosacral area. The diagnosis is congenital hydrocephalus and spine bifida
List 4 causes of spina bifida/ hydrocephalus
53
State 4 main investigation of hydrocephalus
- Cranial ultrasound to check if the fontanelle is open
- Cranial CT for acute assessment of ventricular size
- Cranial MRI for better definition of posterior fossa contents and evaluation of cerebral malformation
54
Describe the treatment for hydrocephalus and state 2 major complications of VP shunt
Treatment:
- Head circumference should be monitored.
- VP shunting is the treatment of choice.
Complications:
- Shunts may be infected by CONS (coagulase-negative Staphylococcus)
- Shunts may be blocked
- Shunt malfunction
- Over drainage of fluid
55
A 12-month-old weighing 10kg is brought to the emergency department with frequent loose stool and vomiting. On assessment, he was severely dehydrated. (10% dehydration)
Describe the clinical signs to assess the hydration status of the above infant
According to pediatrics protocol:
- General condition -> Lethargic or unconscious
- Sunken eyes -> Present
- Not able to drink or drinks poorly
- Skin goes back very slowly (>2 seconds)
56
Briefly list the management of severe dehydration in AGE of that child.
57
List 4 complications of AGE
1. Oliguria
2, Hypovolemic shock
3. Electrolyte imbalance
4. Seizure
5. Metabolic acidosis
58
A 10-year old girl who is suffering from type 1 DM is admitted to the paediatric ward with abdominal pain, vomiting, genital candidiasis and severe dehydration (10%) Her weight is 30 kg
State the probable diagnosis
DKA
59
List 3 investigations with expected findings of the above diagnosis
1. Hyperglycemia: blood glucose >11mmol/L (>200mg/dL)
2. Venous pH <7.3
3. Ketonemia or Ketonuria
60
A 3-year-old boy fell while paddling a tricycle. He developed a hematoma on the leg and swelling of the knee. There is a history of his maternal uncle suffering from hemarthrosis of the joints. The probable diagnosis is hemophilia A
State the mode of inheritance and the clinical types
X-linked recessive
1. Hemophilia A -> factor 8 deficiency
2. Hemophilia B -> factor 9 deficiency
61
List 3 investigations with expected findings to support the diagnosis of Hemophilia
1. Full blood count – normal
2. Coagulation screen – increased APTT
3. Specific factor assay shows low factor 8
4. Bleeding time if applicable
62
State 3 major complications of hemophilia A
1. Joint destruction – Recurrent hemarthrosis into the same joint
2. Acquisition of viruses – hepatitis B, C, or HIV
3. Inhibitors – autoantibodies targeted towards exogenous factor VII or IX neutralizing the clotting activity
63
State any treatment for factor VIII inhibitors
The replacement of factor 8 with the use of either plasma or recombinant factor 8 concentrates to achieve hemostasis can be done
64
A 2-year-old child attends a pediatric clinic with pallor. On physical examination, the child looks pale, is mildly icteric and there is hepatosplenomegaly. His parents are first cousins. The probable diagnosis is beta thalassemia major.
State the mode of inheritance and molecular pathology of beta thalassemia major
Autosomal recessive with Homozygous Beta-Thalassemia
65
List 3 investigation to support the diagnosis of beta thalassemia major
66
Describe 3 main basic principles of treatment of Beta thalassemia major
1. Maintenance of blood transfusion
-> After confirming the diagnosis, if the hemoglobin is less than 7g/dl on 2 separate occasions 2 weeks apart then blood transfusion is indicated.
2. Iron chelating therapy
-> It is essential to prevent iron overload in transfusion-dependent thalassemia
3. Monitor the patient
4. Splenectomy
5. Bone marrow transplantation
67
A 6-year-old child attends the pediatric clinic with malaise, low-grade fever, and bony ache. On examination, there are purpuric rashes on the lower limbs and the spleen tip is palpable. The probable diagnosis is ALL
List 3 investigations with expected findings to diagnose ALL in children
1. Full blood count – low HB, abnormal white cell count, thrombocytopenia
2. Peripheral blood smear - leukemic blast cells
3. Coagulation profile
4. Bone marrow examination – to confirm diagnosis
68
Describe the principle of management of tumor lysis syndrome
Prevention:
- Hydration
- Allopurinol
- Calcium phosphate that precipitates in alkaline urine
- Close electrolyte monitoring
- Strict input output charting
- Furosemide
Treatment
- Treat hyperkalemia – kalimate, resonium, lytic cocktail
2. Diuretics if required
3. Treatment of hypocalcemia depends on phosphate. If phosphate is raised, then correct it. If normal give IV calcium.
4. Definitive treatment is dialysis
-> Hemodialysis is most efficient at correcting electrolyte abnormalities
69
State 4 good prognostic factor in ALL
70
A 7-day-old baby who was well before and with a birth weight of 3 kg is brought to the pediatric clinic with poor feeding, vomiting, and lethargy.
State the probable diagnosis
Neonatal Sepsis
71
Describe 3 important investigation to support the diagnosis of neonatal sepsis
1. Full blood count shows an increase of WBC
2. Blood culture
3. Serial CRP 24 hours apart
4. Lumbar puncture
5. Chest and abdominal X-ray
6. Culture of endotracheal tube aspiration
7. Urine culture
72
Describe the treatment plan for neonatal sepsis
1. Antibiotics are started immediately after taking all the necessary specimens for culture but no need to wait for culture results.
2. Adjust the antibiotics according to the results
3. Give Cloxacillin/ ampicillin and gentamycin for non-CNS infection and C. penicillin and cefotaxime for CNS infections
4. Treatment of complications
5. Supportive therapy
73
List 4 early and late complications of neonatal sepsis
74
A 4-year-old child is rushed to the emergency department with generalized tonic-clonic convulsion for 15 minutes. There is a history of similar episodes for the past 1 year. There was no history of fever, head trauma, or exposure to toxins. The probable diagnosis was epilepsy.
Define and classify epilepsy
75
List 4 investigations with expected findings to come to a diagnosis of epilepsy
1. Blood and urine tests to rule out hypoglycemia and electrolyte imbalances
2. ECG to rule out cardiac dysrhythmias
3. EEG to support the clinical diagnosis of epileptic seizures
4. MRI to rule out space-occupying lesions
76
List 3 drugs used to treat epilepsy in children and the side effects of those drugs
77
A 10-year-old child attends a pediatric clinic with periorbital edema and passage of scanty smoky urine. His blood pressure is 140/90 mmHg (> 95 centile)
State the probable diagnosis
Nephritic Syndrome (Acute Glomerulonephritis)
78
List 3 important investigation with expected findings to support the diagnosis nephritic syndrome
1. Urinalysis and culture -> hematuria and proteinuria till 2+, red cell cast, and pyuria
2. Raised ASOT
3. Increased anti-DNase B
4. Decreased complement C3
5. Increased white cell count on full blood count
79
Describe the principle of treatment for nephritic syndrome
Supportive management:
- Strict monitoring of fluid intake, urine output, daily weight and BP
- Penicillin V for 10 days (Erythromycin if contraindicated)
- Fluid restriction to control edema and circulatory overload during oliguric phases
- Diuretics for children with pulmonary edema
- Diet – salt-free
- Monitor for complication
Specific management:
1. Hypertension – oral nifedipine, furosemide, captopril and metoprolol
2. Severe acute kidney injury - peritoneal dialysis or hemodialysis
3. Hyperkalemia – IV calcium gluconate, IV insulin with dextrose, IV sodium bicarbonate, and Resonium
80
List 4 complications of nephritic syndrome
1. Hypertensive encephalopathy
2. Pulmonary edema
3. Nephrotic syndrome
4. Irreversible renal failure
5. Severe uremia
6. Hyperkalemia
81
A 3-week-old breastfed male baby is presented by the mother, with vomiting, the baby is eager to suck after each vomiting. He is dehydrated and an olive-like mass is felt in the right hypochondrium.
State the probable diagnosis
Congenital hypertrophic pyloric stenosis
82
List the biochemical (electrolyte and blood gas) changes in Congenital Hypertrophic Pyloric Stenosis
Hypokalemic, hyperchloremic, hyponatremic, hypocalcemic metabolic alkalosis
83
A 10-year-old girl attends paediatric clinic with repeated chest infection from infancy. She has chronic steatorrhea and rectal prolapse. She had meconium ileus in neonatal period. Her fingers are clubbed. Her parents are first cousins.
State the probable diagnosis
Cystic Fibrosis
84
List 4 important investigations to confirm the diagnosis of cystic fibrosis
1. Sweat test
2. Immune reactive Trypsin IRT (Guthrie test)
3. Prenatal screening test for chorionic villous sampling
4. Genetic analysis
5. Imaging such as X-ray
6. Pulmonary function test
85
Describe the pathogenesis of the above condition
- CFTR is a CAMP-regulated Cl channel, regulating Cl and Na transport across the epithelial membrane.
- In the lungs, the normal CFTR causes the efflux of chloride ions across the apical membranes of submucosal glands.
- Sodium and water follow after it. - Abnormal CFTR causes the inability to secrete chloride, sodium, and water resulting in viscid secretions.
