Exam learnings Flashcards
What are the key features of ADEM?
Encephalopathy is a hallmark feature.
Typically occurs <10yrs age.
Transient febrile illness a month prior with lethargy, fevers, headache, vomiting, meningeal signs, seizures.
CSF shows pleocytosis (lymphocytosis).
3-5 day course of IV MP with oral prednisolone for few weeks weaning.
What are the features of paediatric MS?
Non-encephalopathic compared to ADEM.
Recurrent with older age of onset.
20% have family history of condition.
CSF shows oligoclonal bands.
MRI brain showing more defined lesions.
What is the gold standard test for Mauriac syndrome?
Liver biopsy.
Mauriac syndrome is a glycogenic hepatopathy with reversible accumulation of excess glycogen in hepatocytes.
It’s a rare complication of T1DM from poor control (rarely in T2DM).
Presents with deranged LFTs, hepatomegaly, poor growth.
Liver USS cannot distinguish from NAFLD.
No clear correlation but possibly related to mutation in PHKG2 gene.
What are the key features of L-asparaginase?
L-asparaginase has been isolated from strains of E.coli.
It treats ALL and lymphoma with side effects including pancreatitis.
Risk of anaphylaxis increases with each administration with children advised to receive prophylactic anti-histamines and steroids. Adrenaline available as emergency medication.
It is not present in humans.
What is the incubation period for norovirus gastro in children?
12-48hours.
Staphylococcal food poisoning has shorter incubation period of 30mins to 8hrs.
Noroviruses belong to family Caliciviridae.
They are non-enveloped single stranded RNA viruses causing GI and stomach inflammation.
What are the features of congenital syphilis?
Most babies examine normal.
Need high index of suspicion and testing.
Features include;
- Snuffles, hemorrhagic rhinitis
- Osteochondritis/periostitis
- Bullous lesions
- Plantar/palmar rash
- Mucous patches
- Hepatomegaly +/- splenomegaly
Key risk factors for myopia
Usually in children older than 5yrs of age.
Affects 5% preschoolers, 10% school aged children, 30% of adolescents.
Risk factors include family history, prolonged time indoors, prolonged screen time or reading.
What is the least likely symptom in Mycoplasma pneumonia of wheeze, diarrhoea, headache and sore throat?
GI and coryza are unusual symptoms in M pneumoniae except in children <5yrs.
3-15yrs age group, 2-3wk incubation period with immunity not long-lasting.
Gradual onset headache, malaise, sore throat, fever, non-productive cough worsen over first week, resolve in two weeks.
Can reduce course of illness with macrolides like azithromycin.
What are the different causes of precocious puberty?
Idiopathic precocious puberty - gonadotropin releasing/dependent.
Pubertal progression of breast development, pubic hair, growth spurt, menarche.
Hypothalamic harmatomas cause central precocious puberty.
Prolonged untreated hypothyroidism; extremely elevated TSH levels cross react with FSH receptors- central cause.
Ovarian tumours cause peripheral precocious puberty, rare and benign.
60% are germ cell tumour and secrete tumour markers and sex hormones like oestrogens.
Granulosa cell tumours are most common.
Features of non classical CAH?
Premature adrenarche is traditionally defined as development of pubic hair before 8yrs in girls, 9yrs in boys, without evidence of maturation.
Genital hair first, then axillary hair, then body odour.
Affected children have advanced bone age and height velocity, DHEA and androstenedione levels are increased compared to older children at same pubertal stages.
Idiopathic premature adrenarche is slowly progressive and requires no treatment.
Non-classical CAH with systemic androgen effects; marked growth acceleration, bone age >2SD above mean, cystic acne, clitoral/phallic enlargement.
Diagnostic timeline of cerebral palsy.
Clinical exam alone; typically 18-24 months.
Three tools with high sensitivity and specificity in ages up to 5 months CGA.
- general movement assessment (GMA)
- HINE; sensitivity at 3 months CGA
- MRI at term equivalent age; CrUSS can also contribute to early detection
Haematuria by aetiology
Glomerular - macroscopically dark/brown, dysmorphic red cells, RBC casts, proteinuria
Non glomerular- normal red cells, macroscopically more red/pink
Macroscopic haematuria approach
Acute nephritis - oedema, HTN, oliguria
Ix - urine PCR, Cr, albumin, C3,C4, ASOT, ANA, antidsDNA, ANCA (lung involvement)
Only macroscopic - exclude exercise induced with urine sample post exercise
Confirm no microscopic haematuria 72hrs post
Both macro and microscopic haematuria when well
- urine phase contrast microscopy, urine PCR
- Non glomerular isomorphic RC, no casts, no proteinuria; Ix urine MCS, urine Ca:Cr ratio, renal USS, Doppler, coags, CT, AXR
- Glomerular dysmorphic RC, casts, proteinuria; Ix serum urea, Cr, C3,C4, serum IgA, renal US, test family, audiology if pos for Alports, renal biopsy
Microscopic haematuria work up
Recheck 2-3 times weekly/fortnightly
If transient or with infection then no further IX
Otherwise the following;
- urine phase contrast microscopy, UPCr ratio
- Glomerular; Cr, UEC, serum C3,C4, serum IgA, renal USS, consider audiology, renal biopsy
- Non glomerular; renal USS, Doppler, AXR, urine Ca:Cr ratio, urine MCs, coags, 24hr urine Ca, uric acid, oxalate, cysteine if stone seen, CTabdo
Proteinuria approach
Urine dipstick protein
If positive, repeat in 2-3 weeks
Confirm with first pass urine protein:Cr ratio and urine MCS
If Urine PCR>0.02 then repeat to confirm and consider 24hr urine protein
If still abnormal then full screen; check BP, drugs, renal function, albumin, C3, C4, ANA, anti dsDNA, ANCA, hepatitis serology, renal USS and consider biopsy
If <0.02 then normal and possibly transient or false positive urine dipstick
Nephrotic syndrome criteria to consider
Proteinuria 3+ on dipstick, urine PCR >200mg/mmol, low albumin <25g/L, oedema when albumin not available
Complete remission; uPCR<20mg/mmol, or neg/trace dipstick on 3 or more consecutive days
Relapse; previous remission but >200mg/mmol protein or urine dipstick 3+ on 3 or more consecutive days with it without oedema
Steroid sensitive NS; complete remission within 4 wks of prednisone at standard dose
Steroid resistant NS; lack of complete remission within 4wks of prednisone at standard dose
Frequently relapsing NS; two or more relapses in first 6 months following remission of the initial episode or 3 or more relapses in any 12 months
Nephrotic syndrome criteria to consider
Proteinuria 3+ on dipstick, urine PCR >200mg/mmol, low albumin <25g/L, oedema when albumin not available
Complete remission; uPCR<20mg/mmol, or neg/trace dipstick on 3 or more consecutive days
Relapse; previous remission but >200mg/mmol protein or urine dipstick 3+ on 3 or more consecutive days with it without oedema
Steroid sensitive NS; complete remission within 4 wks of prednisone at standard dose
Steroid resistant NS; lack of complete remission within 4wks of prednisone at standard dose
Frequently relapsing NS; two or more relapses in first 6 months following remission of the initial episode or 3 or more relapses in any 12 months
Focal segmental glomerulosclerosis (post renal transplant
Key features include kidney transplant history, periorbital oedema, ascites, not unwell appearing, afebrile.
Ix reveal elevated serum Cr, albumin 18 (low), urine WC 2+, RC nil, protein 4+.
Management is IVMP pulse, increase CNI and/or plasmapharesis -> 60% remission after treatment
Overall high likelihood of recurrence 48hrs post transplant, delayed onset >3 months post transplant
Alports Sydrome
- Key features
Genetics
- XL male hemizygous COL4a5 with 100% risk of ESKD, 90% hearing loss, 35% ocular changes
- XL female heterozygous COL4a5 with up to 25% ESKD risk, 10% hearing loss, 1% ocular changes
- AR homozygous COL4a4, COL4a3 with 100% ESKD risk, 2/3 hearing loss, 50% ocular changes
- AD heteroxygous COL4a3 or COL4a4 with up to 20% ESKD, <1% hearing loss and ocular changes
- Digenic inheritance from two different mutations in cis or trans (same vs diff chromosome)
- Commencing ACEi or ARB early will decrease risk of ESKD progression
- Spliced mutations with truncating mutation lead to worse prognosis/disease severity with ESKD
- Other treatments in Alports; SGLT2 and RAAS inhibition, mineralocorticoid receptor antagonist, gene therapy
Commencing Rx for Alports
X linked male - ACEi at time of diagnosis regardless of proteinuria
X linked female - treat with ACEi if microulbiminuria
AR - at time of diagnosis regardless of proteinuria
AD- treat if microalbuminuria
Renal cyst
Follow-up
1) MCDK - non functional kidney ,treat as per single kidney - BP and renal function
2) If simple, 1 cyst or multiple; one per 2-3yrs, BP and urinalysis once able to collect
3) ARPKD - present with CKD, renal f/up
4) ADPKD - uncommon to pick up before 10yrs age, check uric acid - gout
5) Nephronopthisis - extra-renal manifestations, CKD, genetics
CAKUT features
Abnormal nephron formation
- Renal agenesis
- Renal dysplasia
- MCKD
- PKD
Abnormal renal embryonic migration
- Horseshoe kidney
- Ectopic kidney
Abnormal renal collecting system
- Duplication
- Ureter -> megaureter, ectopic ureter, ureterocele, VUR (most common)
- PUJ-obstruction
- Urethra - PUV
- Bladder extrophy (exposed bladder through abdominal wall and skin)
