ABSTRACT
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which leads to accumulation of poorly soluble 2,8-dihydroxyadenine in kidneys resulting in nephrolithiasis as well as chronic kidney disease from crystal nephropathy. This report describes a 55-year-old previously fit man who presented with shortness of breath and the investigative pathway that eventually led to a diagnosis of APRT deficiency. Early diagnosis has aided in timely institution of allopurinol, thereby improving his renal function and possibility of weaning off renal replacement therapy. Genetic testing has enabled early identification of other family members at risk and prevention of renal failure by commencing xanthine oxidoreductase (XOR) inhibitors. The issues surrounding kidney donation by a member of this family are also discussed. This case represents the importance of awareness and recognition of the signs and symptoms of this rare condition, complications of which can be easily prevented by early institution of XOR inhibitor therapy.
Subject(s)
Adenine Phosphoribosyltransferase/deficiency , Metabolism, Inborn Errors/diagnosis , Urolithiasis/diagnosis , Adenine Phosphoribosyltransferase/genetics , Allopurinol/therapeutic use , Early Diagnosis , Enzyme Inhibitors/therapeutic use , Humans , Male , Metabolism, Inborn Errors/drug therapy , Metabolism, Inborn Errors/genetics , Middle Aged , Pedigree , Urolithiasis/drug therapy , Urolithiasis/geneticsABSTRACT
BACKGROUND: The international classification of diseases (ICD) code is frequently used to identify renal impairment in epidemiological research. However, Australian studies examining accuracy of this administrative data in coding kidney injury are lacking. AIMS: To compare the ICD 10 coding with the kidney disease: improving global outcomes (KDIGO) criteria in diagnosing acute kidney injury (AKI) and/or chronic kidney disease (CKD). METHODS: A retrospective study of 325 patients admitted to general medicine during January 2012 was performed. Sensitivity and specificity of ICD 10 in identifying AKI and CKD were calculated using KDIGO as gold standard. RESULTS: The sensitivities of ICD 10 in identifying AKI and CKD were low for both (59.5% and 54.1%), but the specificities were high (86.2% and 90.2%). Using KDIGO criteria, we identified 72 AKI (22%), 56 CKD (17%), 64 AKI on CKD (19%) and 133 controls (40%). Compared to the control group, patients with AKI and AKI on CKD had longer length of stay (3.2 vs 4.9 days and 3.2 vs 4.8 days, P = 0.20). Renal impairment groups had increased in-hospital mortality rate (5% control, 6% AKI, 10% CKD, 9% AKI on CKD) and re-admission rate within 30 days (13% control, 20% AKI, 25% CKD, 26% AKI on CKD). After adjusting for age, gender and comorbidities, the difference in outcomes was not statistically significant. CONCLUSION: This study shows that ICD 10 fails to identify almost half of the patients with AKI (40.5%) and CKD (45.9%) in our cohort. A total of 60% had evidence of renal impairment as defined by KDIGO.
Subject(s)
Acute Kidney Injury/classification , Acute Kidney Injury/epidemiology , General Practice/standards , International Classification of Diseases/standards , Renal Insufficiency, Chronic/classification , Renal Insufficiency, Chronic/epidemiology , Acute Kidney Injury/diagnosis , Aged , Aged, 80 and over , Female , Humans , Incidence , Male , Middle Aged , Prevalence , Renal Insufficiency, Chronic/diagnosis , Retrospective StudiesABSTRACT
AIM: Cyclophosphamide-induced haemorrhagic cystitis (CHC) is an uncommon but well-recognised condition caused by a metabolite, acrolein, which is toxic to the urothelium. Based on similarities in the histopathology of radiation- and chemotherapy-induced haemorrhagic cystitis, benefit from hyperbaric oxygen therapy (HBOT) has been proposed. HBOT produces an increased oxygen partial pressure diffusion gradient between the circulation and surrounding tissues, which enhances neutrophil function and fibroblast and macrophage migration into damaged hypoxic soft tissue, promoting collagen formation, fibroblast growth, angiogenesis and white-cell bacterial killing. There are only isolated case reports of HBOT for CHC, in the literature so we reviewed the New Zealand experience with HBOT in CHC. METHOD: The case records of all patients with CHC referred to the three hyperbaric medicine units in New Zealand between 2000 and 2007 were reviewed retrospectively. RESULTS: Six patients, with life-threatening haemorrhage at the time of referral for HBOT weeks or months after initial presentation with CHC, were identified. Cessation of bleeding occurred in all six patients after 14 to 40 HBOT, without complications. All patients remained clear of haematuria at 11 to 36 months follow-up. CONCLUSIONS: We recommend the use of HBOT in the management of intractable cyclophosphamide-induced haemorrhagic cystitis as an effective and low-risk therapy.
