Congenital kidney disorders

Red flags

Consider urgent referral for patients with the following

Sudden reduction in renal function
Renal colic associated with nephrolithiasis or haematuria

Disease information

Main groups

Cystic kidney diseases
- Autosomal dominant polycystic kidney disease (ADPKD)
- Autosomal recessive polycystic kidney disease
- ADPKD Phenocopy Disorders (Renal Cysts and Diabetes Syndrome, TSC, VHL, ADTKD)
- Nephronophthisis (juvenile and adult)
- Autosomal dominant tubulointerstitial kidney disease (medullary cystic kidney disease)
- Medullary sponge kidney
- Associated with multiple malformation syndrome
  - Tuberous sclerosis complex, Lowe’s syndrome, Von Hippel-Lindau disease
Alport’s syndrome and Thin Basement Membrane Disease
Bartter’s & Gitelman’s syndromes and inherited tubular disorders
Inherited metabolic diseases with renal involvement
- Glomerular (genetic amyloid, Anderson-Fabry disease)
- Non-glomerular (renal Fanconi syndrome, cystinosis, cystinuria, hyperoxaluria
Congenital nephrotic syndrome (Steroid resistant nephritic syndrome, focal segmental glomerulosclerosis), Nail-Patella syndrome
Primary immune glomerulonephritis

Other important information for referring practitioners

Management will depend on the disorder, degree of renal dysfunction and associated defects

Lifestyle changes

Encourage smoking cessation and healthy lifestyle, weight loss if obese and exercise
Low salt diet

Medical management

Genetic counselling

Referral requirements

A referral may be rejected without the following information.

Essential referral information

Reason for referral
Presence of any Red Flags
Timeline of current symptoms
Co-morbidities
Family history
If seen by renal specialist previously include last 2-3 letters
Current medication and allergies
Investigations
- FBC, E/LFTs, eGFR, Urinary protein analysis, Urine microscopy
- If anaemic include iron studies, B12 and folate, CRP and PTH
Renal tract imaging (Ultrasound, CT or MRI)

Additional referral information (useful for processing the referral)

Renal biopsy
Genetic testing

Out of catchment

Metro North Health is responsible for providing public health services to the people who reside within its boundaries. Special consideration is made for patients requiring tertiary care or services that are not provided by their local Hospital and Health Service. If your patient lives outside the Metro North Health area and you wish to refer them to one of our services, inclusion of information regarding their particular medical and social factors will assist with the triaging of your referral.

Clinical Modifiers (where relevant)

Impact on employment
Impact on education
Impact on home
Impact on activities of daily living
Impact on ability to care for others
Impact on personal frailty or safety
Identifies as Aboriginal and/or Torres Strait Islander

Reason for Referral (essential)

To establish a diagnosis
For treatment or intervention
For advice and management
For specialist to take over management
Reassurance for GP/second opinion
For a specified test/investigation the GP can’t order, or the patient can’t afford or access
Reassurance for the patient/family
For other reason (e.g. rapidly accelerating disease progression)
Clinical judgement indicates a referral for specialist review is necessary

Clinical Information (essential)

Presenting symptoms (evolution and duration)
Physical findings
Details of previous treatment (including systemic and topical medications prescribed) including the course and outcome of the treatment
Body mass index (BMI)
Details of any associated medical conditions which may affect the condition or its treatment (e.g. diabetes), noting these must be stable and controlled prior to referral
Current medications and dosages
Drug allergies
Alcohol, tobacco and other drugs use