Dr Jessica Fraser1, THERESA EL ALAM2, HILARY HISCOCK3, LEE SKEAT2,3, RICHARD YU3, MATTHEW JOSE2,3
1Launceston General Hospital, Launceston, Australia, 2Tasmanian School of Medicine, University of Tasmania, Hobart, Australia, 3Renal Unit, Royal Hobart Hospital, Hobart, Australia
Biography:
Basic Physician Trainee at the Launceston General Hospital in Tasmania
Aim:
To review the clinical management of cystinuria in rural and remote communities against the recommendations published by the European Reference Network for Rare Kidney Diseases (ERKNet).
Background:
Cystinuria is an autosomal recessive hereditary disorder which predisposes to cystine stones due to high urinary cystine excretion and low solubility of cystine at normal urinary pH. Optimal management involves early diagnosis, regular monitoring, dietary management and pharmacologic treatment to prevent stone recurrence and preserve renal function.
Methods:
A quality improvement project (QIP) of adults with cystinuria receiving specialist care in Southern Tasmania was conducted. Clinical, biochemical, and radiological data were extracted from hospital records. Management strategies were evaluated against ERKNet recommendations, focusing on diagnosis, dietary advice, pharmacotherapy, urine monitoring, frequency of imaging and specialist follow-up.
Results:
We identified six adults (3 female, mean age = 36 years, 67% rural/remote) seen by urology and/or nephrology specialists. Diagnosis was by a combination of stone analysis (4), genetic testing (1) or elevated urine cystine concentrations (3). Patients experienced a total of 32 stone-related admissions in last 3 years, with imaging confirming obstructive and complex calculi in most cases. Three patients had incomplete stone clearance following intervention. Non-pharmacological management included achieving urine output >3L/day (50%) and urine pH >7.5 (33%). Dietary advice varied, including high fluid intake (100%), low sodium (67%) and methionine restriction (33%). No self-monitoring of urine pH occurred (0%). Pharmacologic management included potassium citrate (4) and Tiopronin (1). We identified patient information brochures and updated our clinic letter template for consistent patient advice and management.
Conclusions:
Management of cystinuria in rural and remote Australians demonstrates partial alignment with ERKNet guidelines. A QIP was initiated to optimise outcomes.