A-N

Question 1

What is Cryptorchidism?

Answer 1

Failure of normal descent of the testes into position

Undescended testes UDT: testes can be found anywhere along normal path with pateint processus vaginalis.

Ectopic: descended through the inguinal canal but ended up somewhere abnormal i.e. femoral, perineum, suprapubic.

Acquired: failure of growth of the spermatic cord in proportion to scrotal growth.

Question 2

What is the aetiology and epidemiology of Cryptorchidism?

Answer 2

3% male infants, 30% premature.

Normal testicular descent:

1. Stage 1 transabdominal: Fetal gubernaculum enlarges under the influence of INSL3/AMH/MIS and fetal testosterone. This anchors the testicle near the inguinal region.
2. Stage 2 inguinoscrotal: Occurs from week 28. Migration of the gubernaculum to the scrotum via the PV with the testes in it. Under androgen control.

Common in prematurity, low BW, hypospadias, PPV, hypopitiutarism if bilateral.

DDX: retractile testes with positive cremasteric response, congenital absence, atrophic testis due to neonatal torsion.

Question 3

What would you find in the history and exam of Cryptorchidism?

Answer 3

Usually asymptomatic, picked dup during child health screen. May present with associated inguinal hernia in ectopic.

Examin a child relaxed in warm room. Most common locaion for the testes is in the inguinal canal, followed by prescrotal, and abdominal.

Question 4

What would you find in the investigations of Cryptorchidism?

Answer 4

Dx is clinical, USS ay help if location not determined. Bilateral impalpable testes require BHCG stimulation test, and potentially laproscopic exploration and chromosomal mapping.

Question 5

What is the management of Cryptorchidism?

Answer 5

Orchidoplexy with PPV ligation preformed at 6m-1y.

Question 6

What are the complications of Cryptorchidism?

Answer 6

Abnormal testes location can lead to infertility, difficulty in spermatogenesis and increased risk of malignancy by 60%. Good prognosis with intervention.

Question 7

What is Faecal soiling (encopresis) move to GI?

Answer 7

Voluntary or involuntary passing of faeces after the age where continence control is normal (3-4y).

Question 8

What is the aetiology and epidemiology of Faecal soiling (encopresis)?

Answer 8

3/100, decreases with age.

Retentive encopresis: most common. Functional retention of faeces -> stretching of rectum and anal sphincter -> loss or tolerance to stretch response and decreased drive to pass stool due to loss of defecation sensation.

Non retentive: occurs without constipation

Emotional: In distressed child. Conflict abuse and behavioural issues.

May be associated with surgical intervention for Hirschprungs, ARMs, neuropathy and behavioural problems.

Question 9

What would you find in the history and exam of Faecal soiling (encopresis)?

Answer 9

Detailed history from carer on stool habits/sensations/constipation. Detailed social hx.

Abdominal: fecal loaing may be felt.

DRE: may feel rectum filled with soft stool. Examine for anal fissures or tear. May have reduced anal wink and tone. Anal sphincter lax due to chronic distension.

Question 10

What would you find in the investigations of Faecal soiling (encopresis)?

Answer 10

Anorectal manomerty

Radionuclear transit scintiography: due visualize passage of stool and exclude Hirschprungs etc.

Question 11

What is the management of Faecal soiling (encopresis)?

Answer 11

Medical: constipation management and diet control. Colonic evacuation / laxatives / enemas.

Behavioral strategies, parent and child education, biofeedback training. Surgical intervention with an anterograde continence enema (ACE) may be required.

Question 12

What are the complications of Faecal soiling (encopresis)?

Answer 12

Psychosocial, stress for individual and family.

Good with treatment, most resolve in a few years.

Question 13

What is Hypospadias?

Answer 13

Abnormality of urethral/penile development resulting in ectopic urethral opening.

Question 14

What is the aetiology and epidemiology of Hypospadias?

Answer 14

1/200 live births.

Can be anywhere from glans to perineum. Distal more common than proximal. Genetic, environmental and endocrine factors. Polygenic inheritance, mainly 5a-reductase or androgen synthesis mutations. Higher in IVF babies due to progesterone administration.

Associated with cryptorchidism, PPV, abnormal shaft curvature.

Question 15

What would you find in the history and exam of Hypospadias?

Answer 15

Most detected postnatally with associated hooded prepuce. Glandular may present later. Position may be glandular, coronal, subcoronal, distal shaft, mid shaft, proximal shaft, perineal. May be associated with bifid scrotum.

Question 16

What would you find in the investigations of Hypospadias?

Answer 16

RUSS. More investigations if there is a severe or proximal hypospasdias and associated cryptorchidism. (exclude ambiguous genitalia).

Question 17

What is the management of Hypospadias?

Answer 17

Initially do not circumcise because foreskin may be used in reconstruction. Parental counselling.

Surgery 9-12m, to reconstruct urethra and produce a glandular opening in normal place. Mild glandular hypospadias may be managed conservatively. May have to preform staged procedure in proximal hypospadias. Tubularised incised plate (TIP) is the most commonly used procedure.

Question 18

What are the complications of Hypospadias?

Answer 18

Surgical: stenosis, infection, urethrocele, fistula formation.

Generally very good, complications depend on technique.

Question 19

What is Nephrotic syndrome?

Answer 19

NePHOtic: proteinuria, hypoalbumin, odema.

Question 20

What is the aetiology and epidemiology of Nephrotic syndrome?

Answer 20

Developed countries: MCD is the main cause in 90% of children.

Non developed countries: most infectious, malaria highest cause, HepB and GBS.

Glomerulonephritis -> nephrotic syndrome.

· Primary: minimal change disease MCD, focal segmental glomerulosclerosis FSGS, and membranous nephropathy MN.

· Secondary: post infection (malaria, GBS, HepB, VZV, syphillis, HIV, Tb, EBV), Collagen vascular disease, HSP, Congenital (Alports syndrome) Siclke cell disease.

Question 21

What would you find in the history and exam of Nephrotic syndrome?

Answer 21

General: anorexia, oliguria, lethargy, hypertension

GI: diahrrea, nausea, poor feeding, pain

Odema: swelling of etelids, face, ascites, legs and scrotum.

Complications: infections, renal vein thrombosis, loin pain, haematuria.

Question 22

What would you find in the investigations of Nephrotic syndrome?

Answer 22

Bloods: Ues, albumin, FBC, CRPESR high, lipid profile.

Post infectious: ASOT, Thick and thin films, HBV/EBV/HIV serology.

Urine dipstick: high protein, high blood.

MSU: MCS. 24h urine collection for creatinine clearance.

Renal USS and biopst: other renal disease causing proteinuria (polycyst) biopsy for older children with persistent hematuria.

Doppler USS if renal vein thrombosis suspected.

Question 23

What is the management of Nephrotic syndrome?

Answer 23

Symptom treatment – low Na and water diet.

Monitor BP, Ues, Ca, weight, fluid balance.

6 month daily prednisolone on first presentation, then on relapse Prednisolone daily until remission. Alternating prednisolone with steroid sparing agent (cyclophosph) in steroid resistant patients.

Treat HTN with ACEi. Penicillin prophylaxis to prevent peritonitisand avoid septicaemia if thrombosis.

Question 24

What are the complications of Nephrotic syndrome?

Answer 24

Renal failure from hypovolaemia or thrombosis.

Infeciton susceptibiity, peritonitis and pneumococcal sepsis.

Hypercoaguability: renal vein thrombosis and DVTs due to hypovolaemia, urinary loss of proteins (antithrombin, protein C/S.

Hyperlipidaemia: high synthesis of TG and cholesterol in liver (combined with albumin increased synthesis due to wasting.

Before steroids, 60% children used to die. Steroids revolutionised and now pgx affectd by cmx and S/E of tx.

Question 25

What is enuresis?

Answer 25

normal micturition occurring at an inappropriate or socially unacceptable time or place, occurring after a developmental age when bladder control should be established (~5 years)

Question 26

What are the types of enuresis?

Answer 26

o Primary nocturnal enuresis: nocturnal enuresis in which the child has never had a period of dryness longer than 6 months o Secondary nocturnal enuresis: nocturnal enuresis recurring after a period of more than 6 months of the child being dry at night o Daytime enuresis

Question 27

What is daytime enuresis?

Answer 27

Defined as a lack of bladder control during the day in a child that is old enough to be continent (over 3-5 years)

Question 28

What are the causes of daytime enuresis?

Answer 28

o Lack of attention to bladder sensation (manifestation of developmental or psychogenic problem) o Detrusor instability (sudden, urgent urge to void induced by sudden bladder contractions) o Bladder neck weakness o Neuropathic bladder (bladder is enlarged and fails to empty properly, irregularly thick wall, associated with spina bifida and other neurological conditions) o UTI o Constipation o Ectopic ureter (causes constant dribbling)

Question 29

What investigations do you do for enuresis?

Answer 29

o Urine should be sent for MC&S o Ultrasound may reveal abnormalities o Urodynamic studies may be required o MRI may be used to exclude a spinal defect

Question 30

What is secondary enuresis?

Answer 30

The loss of previously achieved urinary continence may be due to: o Emotional upset (MOST COMMON) o UTI o Polyuria from an osmotic diuresis (e.g. diabetes mellitus, diabetes insipidus, CKD)

Question 31

What investigations do you do for secondary enuresis?

Answer 31

o Urine dipstick to check for infection, glycosuria and proteinuria o Assessment of urine concentrating ability by measuring osmolality of an early morning urine sample o Ultrasound of the renal tract

Question 32

What is the management in enuresis >5yrs?

Answer 32

▪ If bedwetting is infrequent (< 2 per week) reassure the parents and offer watch-and-see approach ▪ If long-term treatment is required, offer: • 1st line: enuresis alarm with positive reward system e.g. star charts • 2nd line: desmopressin o NOTE: fluid should be restricted 1 hour before desmopressin until 8 hours after If rapid or short-term control is required (e.g. school trips), offer desmopressin ▪ If bedwetting recurs following treatment, restart previously successful treatments and offer combination treatment with desmopressin and an enuresis alarm ▪ TCAs and antimuscarinics may be considered in special cases ▪ Referral • If bedwetting has NOT responded to two courses of treatment, refer to secondary care, enuresis clinic or community paediatrician

Question 33

What is the management of enuresis <5yrs?

Answer 33

▪ Reassure the parents that many children aged < 5 yrs wet the bed and this usually resolves without intervention ▪ Ensure easy access to the toilet at night (e.g. potty near the bed) ▪ Encourage bladder emptying before bed ▪ Consider a positive reward system

Question 34

What might you also consider managing in secondary enuresis?

Answer 34

o The following underlying causes can be managed in primary care ▪ UTI ▪ Constipation o The following underlying causes are likely to need specialist referral ▪ Diabetes ▪ Recurrent UTI ▪ Psychological problems ▪ Family problems ▪ Developmental, attention or learning difficulties ▪ Known or suspected physical or neurological problems

Question 35

Where may you refer a child with enuresis?

Answer 35

Secondary care/ enuresis clinic

Question 36

What is acute glomerulonephritis?

Answer 36

Acute glomerulonephritis (GN) comprises a specific set of renal diseases in which an immunologic mechanism triggers inflammation and proliferation of glomerular tissue that can result in damage to the basement membrane, mesangium, or capillary endothelium.

Question 37

What investigations would you do for acute glomerulonephritis?

Answer 37

Must carry out U&Es, urine dip, creatinine and blood pressure to check renal function

Question 38

What are the clinical features of acute glomerulonephritis?

Answer 38

Characteristically presents with red-brown (coca cola) urine, proteinuria, oedema, hypertension and acute renal failure (elevated serum creatinine)

Question 39

What is the management of acute glomerulonephritis?

Answer 39

Supportive – treat volume overload e.g. sodium and water restriction, loop diuretics

Question 40

What is a nephroblastoma?

Answer 40

The most common form of renal malignancy in childhood. Originates from embryonal renal tissue.

Question 41

What is the epidemiology of nephroblastoma?

Answer 41

Usually occurs in first 2-5 years of life Rarely seen after 10 years of age

Question 42

What are the clinical features of a nephroblastoma?

Answer 42

• Abdominal mass o Usually found incidentally in otherwise well child • Haematuria ``` • Less common o Abdominal pain o Anorexia o Anaemia (haemorrhage into mass) o Hypertension ```

Question 43

What investigations would you use for a nephroblastoma?

Answer 43

• Ultrasound • CT/MRI: shows intrinsic renal mass o Characteristically shows mixed tissue densities (cystic and solid) o Arises within the kidney and envelops a remnant of normal renal tissue

Question 44

What is the management of nephroblastoma?

Answer 44

• Surgery and chemotherapy (may be post-operative or pre-operative) • Subsequent management is dependent on histological findings o Advanced disease → radiotherapy • 5% have bilateral disease • More than 80% of patients are cured