Presentations
- Abnormal electrolytes
- Acute kidney injury
- Chronic kidney disease
- Findings or risk identified in association with a genetic or syndromic diagnosis
- Growth failure
- Macro or microhaematuria
- Nephrolithiasis or nephrocalcinosis
- Proteinuria
- Structural abnormalities detected antenatally as incidental findings or during investigation of a syndromic diagnosis
- Urinary tract infection
Conditions
- Congenital abnormalities of the kidney and urinary tract (CAKUT):
- kidney dysplasia
- posterior urethral valves
- urinary tract obstruction
- vesicoureteral reflux
- Congenital nephrotic syndrome
- Cystic diseases of the kidneys, including:
- autosomal dominant polycystic kidney disease (ADPKD)
- autosomal recessive polycystic kidney disease (ARPKD)
- other forms of cystic kidney disease, e.g. nephronophthisis and HNF1b mutation
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- Genetic tubular disease:
- Fanconi syndrome and related diseases
- renal tubular acidosis
- salt losing tubulopathies, e.g. Bartter and Gitelman syndromes
- Inborn errors of metabolism causing CKD, including:
- Fabry disease
- glycogen storage disorders
- methylmalonic acidemia (MMA)
- oxalosis (inherited)
- renal tubular acidosis
- Podocytopathy, glomerular basement membrane (GBM)/structural abnormalities:
- congenital nephrotic syndrome
- diffuse mesangial sclerosis
- genetic disorders of collagen
- Thrombotic microangiopathy (TMA), including haemolytic uremic syndrome (HUS) and thrombotic thrombocytopenic purpura (TTP)
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- take a relevant clinical history
- conduct an appropriate examination
- recognise the clinical presentation
- establish a differential diagnosis
- plan and arrange appropriate investigations
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- consider the impact of illness and disease on patients25 and their quality of life
- recognise the risk to future generations and to other family members
Manage
- provide evidence-based management For less common or more complex presentations and conditions the trainee must also seek expert opinions
- prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management appropriate screening and where possible, preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
- identify the wider family implications of a genetic diagnosis and arrange appropriate genetic counselling
- Difficult or rare metabolic acidosis – amino acid metabolism disorders, mitochondrial disorders
- Kidney manifestations of systemic and genetic disease including:
- amyloid
- connective tissue disease
- Von Hipple Lindau syndrome
- Neurocutaneous diseases
- Other rare genetic kidney diseases, e.g. tuberous sclerosis
- Uromodulin-related disorders
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- take a relevant clinical history
- conduct an appropriate examination
- recognise the clinical presentation
- establish a differential diagnosis
- plan and arrange appropriate investigations
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- consider the impact of illness and disease on patients25 and their quality of life
- recognise the risk to future generations and to other family members
Manage
- provide evidence-based management For less common or more complex presentations and conditions the trainee must also seek expert opinions
- prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management appropriate screening and where possible, preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
- identify the wider family implications of a genetic diagnosis and arrange appropriate genetic counselling
- Broad understanding of general concepts of genetic inheritance and limitations as they apply to evolving epidemiology and clinical research
- Pathophysiology and genetics where relevant to the above conditions
- Physiology of antidiuretic hormone (ADH) and the use of tolvaptan or high water intake to moderate cyst growth
Clinical work-up
- Appropriate referral to other clinical services
- Genetic testing
- Imaging where indicated:
- CT intravenous pyelogram
- micturating cystourethrogram (MCUG)
- nuclear imaging, such as MAG3, dimercapto succinic acid (DMSA), and kidney scan
- ultrasound
- Laboratory work-up
- Pre-symptomatic screening of patients' at-risk family members for genetic disease
Genetic testing
- Have an understanding of cascade testing
- Implications of a positive genetic test on the patient and family
- Knowledge of the currently available genetic tests where indicated, including the use of comparative genomic hybridization (CGH) arrays, renal panels for exome sequencing, whole exome sequencing, and specific gene testing where there is a strong clinical indication
- Use of specialist clinics, genetics counsellors, and gene testing where there is a strong clinical indication
- Clinical, diagnostic, and epidemiologic differences between simple, acquired, and inherited cystic diseases
- Genetic investigations and their limitations
- Implications of bladder abnormalities on native or other graft kidney function, such as neurogenic bladder, reconstructions
- Inherited causes of nephrocalcinosis
- Kidney pathologic manifestations associated with hereditary and congenital kidney diseases
ADPKD
- Clinical manifestations and management of ADPKD, including:
- conventional therapy for slowing progression
- cyst growth and monitoring haematuria kidney cell carcinoma
- kidney failure
- nephrolithiasis
- novel therapy, including tolvaptan
- proteinuria
- urinary tract infections
- Clinical observations and implications:
- genetic testing, predictive testing, and screening
- insights into disease prevalence
- molecular mechanisms
- phenotype definition
- Co-incident diagnosis of cystic kidney and work-up required
- Definitions of number of cysts per age group to diagnose cystic kidney disease
- Extrarenal manifestations of ADPKD:
- hepatic cysts
- intracranial aneurysms
- other organ involvement from failure of the primary cilia
- Importance of counselling, including pregnancy and reproductive issues
PCH
- Paediatric trainees are expected to have a more detailed knowledge of information contained in this knowledge guide compared to trainees in adult medicine.
