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Parapelvic cysts leading to a diagnosis of Fabry disease
nephrology image
http://www.kidney-international.org & 2008 International Society of Nephrology
Kidney International (2008) 74, 1366; doi:10.1038/ki.2008.141
Parapelvic cysts leading to a diagnosis of Fabry disease JA Sayer1, P Haslam2 and P Brennan1 1
Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle Upon Tyne, UK and 2Department Radiology, Newcastle upon Tyne NHS Hospitals, Newcastle Upon Tyne, UK Correspondence: JA Sayer, Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle Upon Tyne NE1 3BZ, UK. E-mail: [email protected]
LT 8 cm
Figure 1 | Intravenous urogram examination.
A 37-year-old man was referred to the nephrology department for further management. He had documented proteinuria for over 20 years, quantified as 700 mg 24 h 1 approximately 10 years ago in the context of preserved renal function (serum creatinine o1 mg per 100 ml). One year previously, following an ultrasound scan of his kidneys, which showed bilateral cystic changes, he was labeled as having ‘polycystic kidney disease’. His up-to-date biochemistry confirmed preserved renal function (creatinine 1.11 mg per 100 ml, estimated glomerular filtration rate 78.3 ml min 1 1.73 m 2), but modest proteinuria was now documented (urine protein 2 g 24 h 1). Additional imaging of his renal tract was performed. An intravenous urogram examination confirmed bilateral renal enlargement (right kidney 15 cm, left kidney 15.5 cm), but contrast was promptly excreted with no evidence of obstruction (Figure 1). A magnetic resonance image of the kidneys using gadolinium revealed ‘multiple parapelvic cysts’ that did not communicate with the collecting system (Figure 2). 1366
Figure 2 | A magnetic resonance image of the kidneys with contrast showing normal collecting system with prominent parapelvic cysts.
The observation of multiple parapelvic cysts in the workup of a patient with kidney disease strongly suggested Fabry disease in the differential diagnosis (Kidney Int 2004; 66: 978–982). He confirmed a history of acroparesthesia, temperature intolerance, and fatigue dating back to childhood. His family history revealed a maternal grandfather dying of ‘nephritis at the age of 40 years’. Clinical examination revealed typical angiokeratomas on his scrotum. a-Galactosidase assay confirmed diagnosis of Fabry disease, showing a-galactosidase level of 0.45 mmol l 1 h 1 (normal range 2–20). Mutation analysis of the X-chromosome gene GLA in the patient has since detected a G-to-A substitution affecting the last nucleotide in exon 3 (c.547G4A), which is predicted to disrupt splicing, and his mother has been confirmed as being heterozygous for this change. We conclude that in the presence of parapelvic kidney cysts, diagnosis of Fabry disease should be considered.
Kidney International (2008) 74, 1366
http://www.kidney-international.org & 2008 International Society of Nephrology
Kidney International (2008) 74, 1366; doi:10.1038/ki.2008.141
Parapelvic cysts leading to a diagnosis of Fabry disease JA Sayer1, P Haslam2 and P Brennan1 1
Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle Upon Tyne, UK and 2Department Radiology, Newcastle upon Tyne NHS Hospitals, Newcastle Upon Tyne, UK Correspondence: JA Sayer, Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle Upon Tyne NE1 3BZ, UK. E-mail: [email protected]
LT 8 cm
Figure 1 | Intravenous urogram examination.
A 37-year-old man was referred to the nephrology department for further management. He had documented proteinuria for over 20 years, quantified as 700 mg 24 h 1 approximately 10 years ago in the context of preserved renal function (serum creatinine o1 mg per 100 ml). One year previously, following an ultrasound scan of his kidneys, which showed bilateral cystic changes, he was labeled as having ‘polycystic kidney disease’. His up-to-date biochemistry confirmed preserved renal function (creatinine 1.11 mg per 100 ml, estimated glomerular filtration rate 78.3 ml min 1 1.73 m 2), but modest proteinuria was now documented (urine protein 2 g 24 h 1). Additional imaging of his renal tract was performed. An intravenous urogram examination confirmed bilateral renal enlargement (right kidney 15 cm, left kidney 15.5 cm), but contrast was promptly excreted with no evidence of obstruction (Figure 1). A magnetic resonance image of the kidneys using gadolinium revealed ‘multiple parapelvic cysts’ that did not communicate with the collecting system (Figure 2). 1366
Figure 2 | A magnetic resonance image of the kidneys with contrast showing normal collecting system with prominent parapelvic cysts.
The observation of multiple parapelvic cysts in the workup of a patient with kidney disease strongly suggested Fabry disease in the differential diagnosis (Kidney Int 2004; 66: 978–982). He confirmed a history of acroparesthesia, temperature intolerance, and fatigue dating back to childhood. His family history revealed a maternal grandfather dying of ‘nephritis at the age of 40 years’. Clinical examination revealed typical angiokeratomas on his scrotum. a-Galactosidase assay confirmed diagnosis of Fabry disease, showing a-galactosidase level of 0.45 mmol l 1 h 1 (normal range 2–20). Mutation analysis of the X-chromosome gene GLA in the patient has since detected a G-to-A substitution affecting the last nucleotide in exon 3 (c.547G4A), which is predicted to disrupt splicing, and his mother has been confirmed as being heterozygous for this change. We conclude that in the presence of parapelvic kidney cysts, diagnosis of Fabry disease should be considered.
Kidney International (2008) 74, 1366