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Primary Hyperoxaluria-Imaging of Renal Oxalosis
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Primary Hyperoxaluria- Imaging of Renal Oxalosis Dillibabu Ethiraj Post Graduate resident , Venkatraman Indiran Professor Consultant Radiologist PII: DOI: Reference:
S0090-4295(19)30848-9 https://doi.org/10.1016/j.urology.2019.09.020 URL 21790
To appear in:
Urology
Received date: Revised date: Accepted date:
19 August 2019 14 September 2019 23 September 2019
Please cite this article as: Dillibabu Ethiraj Post Graduate resident , Venkatraman Indiran Professor Consultant Rad Primary HyperoxaluriaImaging of Renal Oxalosis, Urology (2019), doi: https://doi.org/10.1016/j.urology.2019.09.020
This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. © 2019 Published by Elsevier Inc.
IMAGES IN CLINICAL UROLOGY Primary Hyperoxaluria- Imaging of Renal Oxalosis Keywords: Primary Hyperoxaluria, Nephrocalcinosis, End stage renal disease, Oxalosis Author 1. Dillibabu Ethiraj Post Graduate resident, Department of Radiodiagnosis SREE BALAJI MEDICAL COLLEGE AND HOSPITAL 7 Works Road, Chromepet Chennai, Tamilnadu India PIN 600044 Email:[email protected]
2. Venkatraman Indiran Corresponding author (a) Professor, Department of Radiodiagnosis SREE BALAJI MEDICAL COLLEGE AND HOSPITAL 7 Works Road, Chromepet
Chennai, Tamilnadu India PIN 600044 (b) Consultant Radiologist , IVR Scans 1, Nellipet Cross Street, Chromepet Chennai, Tamilnadu India PIN 600044 Phone: + 044 22653429 Mobile: + 91 9443067358 Email: [email protected]
Compliance with ethical standards Funding There is no funding.
Conflict of interest
Author declares that they have no conflict of interest.
Ethical approval (animals) This article does not contain any studies with animals performed by any of the author(s).
Ethical approval All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.
Informed consent Informed consent was obtained from individual participant included in the study.
------------------------------------------Dear Editor,
I, Dr. Venkatraman Indiran, as first and corresponding author submit this manuscript titled “Primary Hyperoxaluria- Imaging of Renal Oxalosis” to your esteemed journal for publication under Images in Clinical Urology
Conflicts of interest and sources of financial support – Nil Acknowledgments- Nil
Thanking You
Dr. Venkatraman Indiran
Abstract Primary Hyperoxaluria is a rare autosomal recessive hereditary disorder due to deficient alanineglyoxylate aminotransferase (AGT) enzyme with defective glyoxylate metabolism leading to excessive oxalate production and deposition into the tissues (oxalosis). Deposition of excessive calcium oxalates in nephrons leads to crystallization (nephrocalcinosis) which increases risk for end stage renal disease (ESRD). We are presenting a case of primary hyperoxaluria type I (PH1) confirmed with genetic studies.
Manuscript A 9-months-old male infant with poor weight gain was brought with ESRD. An uncle and two nephews died of the same disease. Serum creatinine (640µmol/L) and plasma oxalate were high (66.0µmol/L). Pathogenic mutation of Alanine glyoxylate aminotransferase enzyme gene confirmed the diagnosis of PH1. Ultrasound (USG) showed bilateral enlarged kidneys (~6.8 cm length) with increased parenchymal echogenicity and loss of cortico-medullary differentiation (Figure 1). Plain radiograph and non-contrast CT showed bilateral dense nephrocalcinosis
(Figure 2, 3). While on hemodialysis (4 times/week), he underwent liver transplantation and is awaiting renal transplantation.
PH1 is the most common and serious type of primary hyperoxaluria (PH), a rare autosomal recessive hereditary disorder (prevalence of 1-3/million population) (1). Deficiency of AGT causes defective glyoxylate metabolism, excessive oxalate production and deposition (oxalosis) (2). Super-saturation of calcium oxalates in nephrons leads to crystallization and renal parenchymal deposition (nephrocalcinosis). Nephrocalcinosis increases risk for ESRD whereas nephrolithiasis is not significantly associated with ESRD (3). Oxalosis occurs whenever serum oxalate is >30.0µmol/L. Urine oxalate >45mg/day is classical of PH. Imaging should include USG, radiograph and CT (4). Prenatal screening is essential for suspected PH. Treatment of choice in PH1 with ESRD is liver and kidney transplantation (combined or sequential) (5).
References
1.
Lorenzo V, Torres A, Salido E. Primary hyperoxaluria.Nefrologia. 2014 May 21;34(3):398-412
2.
Danpure CJ, Rumsby G. Molecular aetiology of primary hyperoxaluria and its implications for clinical management. Expert Rev Mol Med 2004;6(1):1-16.
3.
Tang X et al, Nephrocalcinosis is a risk factor for kidney failure in primary hyperoxaluria. Kid Int 2015;87:623-641
4.
Milliner DS. The primary hyperoxalurias: an algorithm for diagnosis. Am J Nephrol 2005; 25: 154-160
5.
Bhasin B, Ürekli HM, Atta MG. Primary and secondary hyperoxaluria: Understanding the enigma. World J Nephrol. 2015 May 6; 4(2):235-44.
Figure Legends
Figure 1: USG shows bilateral enlarged kidneys with increased parenchymal echogenicity and calcification with loss of cortico-medullary differentiation
Figure 2: A. Plain radiograph shows bilateral nephrocalcinosis B. Reconstructed coronal CT image of bilateral nephrocalcinosis
Figure 3A, B: Axial section and coronal section of pre-contrast CT abdomen shows bilateral extensive nephrocalcinosis
Primary Hyperoxaluria- Imaging of Renal Oxalosis Dillibabu Ethiraj Post Graduate resident , Venkatraman Indiran Professor Consultant Radiologist PII: DOI: Reference:
S0090-4295(19)30848-9 https://doi.org/10.1016/j.urology.2019.09.020 URL 21790
To appear in:
Urology
Received date: Revised date: Accepted date:
19 August 2019 14 September 2019 23 September 2019
Please cite this article as: Dillibabu Ethiraj Post Graduate resident , Venkatraman Indiran Professor Consultant Rad Primary HyperoxaluriaImaging of Renal Oxalosis, Urology (2019), doi: https://doi.org/10.1016/j.urology.2019.09.020
This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. © 2019 Published by Elsevier Inc.
IMAGES IN CLINICAL UROLOGY Primary Hyperoxaluria- Imaging of Renal Oxalosis Keywords: Primary Hyperoxaluria, Nephrocalcinosis, End stage renal disease, Oxalosis Author 1. Dillibabu Ethiraj Post Graduate resident, Department of Radiodiagnosis SREE BALAJI MEDICAL COLLEGE AND HOSPITAL 7 Works Road, Chromepet Chennai, Tamilnadu India PIN 600044 Email:[email protected]
2. Venkatraman Indiran Corresponding author (a) Professor, Department of Radiodiagnosis SREE BALAJI MEDICAL COLLEGE AND HOSPITAL 7 Works Road, Chromepet
Chennai, Tamilnadu India PIN 600044 (b) Consultant Radiologist , IVR Scans 1, Nellipet Cross Street, Chromepet Chennai, Tamilnadu India PIN 600044 Phone: + 044 22653429 Mobile: + 91 9443067358 Email: [email protected]
Compliance with ethical standards Funding There is no funding.
Conflict of interest
Author declares that they have no conflict of interest.
Ethical approval (animals) This article does not contain any studies with animals performed by any of the author(s).
Ethical approval All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.
Informed consent Informed consent was obtained from individual participant included in the study.
------------------------------------------Dear Editor,
I, Dr. Venkatraman Indiran, as first and corresponding author submit this manuscript titled “Primary Hyperoxaluria- Imaging of Renal Oxalosis” to your esteemed journal for publication under Images in Clinical Urology
Conflicts of interest and sources of financial support – Nil Acknowledgments- Nil
Thanking You
Dr. Venkatraman Indiran
Abstract Primary Hyperoxaluria is a rare autosomal recessive hereditary disorder due to deficient alanineglyoxylate aminotransferase (AGT) enzyme with defective glyoxylate metabolism leading to excessive oxalate production and deposition into the tissues (oxalosis). Deposition of excessive calcium oxalates in nephrons leads to crystallization (nephrocalcinosis) which increases risk for end stage renal disease (ESRD). We are presenting a case of primary hyperoxaluria type I (PH1) confirmed with genetic studies.
Manuscript A 9-months-old male infant with poor weight gain was brought with ESRD. An uncle and two nephews died of the same disease. Serum creatinine (640µmol/L) and plasma oxalate were high (66.0µmol/L). Pathogenic mutation of Alanine glyoxylate aminotransferase enzyme gene confirmed the diagnosis of PH1. Ultrasound (USG) showed bilateral enlarged kidneys (~6.8 cm length) with increased parenchymal echogenicity and loss of cortico-medullary differentiation (Figure 1). Plain radiograph and non-contrast CT showed bilateral dense nephrocalcinosis
(Figure 2, 3). While on hemodialysis (4 times/week), he underwent liver transplantation and is awaiting renal transplantation.
PH1 is the most common and serious type of primary hyperoxaluria (PH), a rare autosomal recessive hereditary disorder (prevalence of 1-3/million population) (1). Deficiency of AGT causes defective glyoxylate metabolism, excessive oxalate production and deposition (oxalosis) (2). Super-saturation of calcium oxalates in nephrons leads to crystallization and renal parenchymal deposition (nephrocalcinosis). Nephrocalcinosis increases risk for ESRD whereas nephrolithiasis is not significantly associated with ESRD (3). Oxalosis occurs whenever serum oxalate is >30.0µmol/L. Urine oxalate >45mg/day is classical of PH. Imaging should include USG, radiograph and CT (4). Prenatal screening is essential for suspected PH. Treatment of choice in PH1 with ESRD is liver and kidney transplantation (combined or sequential) (5).
References
1.
Lorenzo V, Torres A, Salido E. Primary hyperoxaluria.Nefrologia. 2014 May 21;34(3):398-412
2.
Danpure CJ, Rumsby G. Molecular aetiology of primary hyperoxaluria and its implications for clinical management. Expert Rev Mol Med 2004;6(1):1-16.
3.
Tang X et al, Nephrocalcinosis is a risk factor for kidney failure in primary hyperoxaluria. Kid Int 2015;87:623-641
4.
Milliner DS. The primary hyperoxalurias: an algorithm for diagnosis. Am J Nephrol 2005; 25: 154-160
5.
Bhasin B, Ürekli HM, Atta MG. Primary and secondary hyperoxaluria: Understanding the enigma. World J Nephrol. 2015 May 6; 4(2):235-44.
Figure Legends
Figure 1: USG shows bilateral enlarged kidneys with increased parenchymal echogenicity and calcification with loss of cortico-medullary differentiation
Figure 2: A. Plain radiograph shows bilateral nephrocalcinosis B. Reconstructed coronal CT image of bilateral nephrocalcinosis
Figure 3A, B: Axial section and coronal section of pre-contrast CT abdomen shows bilateral extensive nephrocalcinosis