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Primary hyperoxaluria, type I(HP1)

MedGen UID:
75658
Concept ID:
C0268164
Disease or Syndrome
Synonyms: Alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria; Hepatic AGT deficiency; HP1; Oxalosis 1; OXALOSIS I; Peroxisomal alanine glyoxylate aminotransferase deficiency; Primary hyperoxaluria type 1; Serine pyruvate aminotransferase deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Primary hyperoxaluria, type I (65520001); Glycolic aciduria (65520001); Alanine-glyoxylate aminotransferase deficiency (65520001); 2-Oxoglutarate glyoxylate carboligase deficiency (65520001); Oxalosis type I (65520001); Primary hyperoxaluria type I (65520001); Alanine-glycoxylate aminotransferase deficiency (65520001)
 
Gene (location): AGXT (2q37.3)
OMIM®: 259900
Orphanet: ORPHA93598

Definition

Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium oxalate crystals that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis / urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD). Age at onset of symptoms ranges from infancy to the sixth decade. Approximately 10% of affected individuals present in infancy or early childhood with nephrocalcinosis, with or without nephrolithiasis, and failure to thrive related to renal failure. The majority of individuals with PH1 present in childhood or early adolescence, usually with symptomatic nephrolithiasis and normal or reduced kidney function. The remainder of affected individuals present in adulthood with recurrent renal stones and a mild-to-moderate reduction in kidney function. The natural history of untreated PH1 is one of progressive decline in renal function as a result of calcium oxalate deposits in kidney tissue and complications of nephrolithiasis (e.g., obstruction and infection) with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD and/or complications of oxalosis. [from GTR]

Additional descriptions

From GeneReviews
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium oxalate crystals that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis / urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD). Age at onset of symptoms ranges from infancy to the sixth decade. Approximately 10% of affected individuals present in infancy or early childhood with nephrocalcinosis, with or without nephrolithiasis, and failure to thrive related to renal failure. The majority of individuals with PH1 present in childhood or early adolescence, usually with symptomatic nephrolithiasis and normal or reduced kidney function. The remainder of affected individuals present in adulthood with recurrent renal stones and a mild-to-moderate reduction in kidney function. The natural history of untreated PH1 is one of progressive decline in renal function as a result of calcium oxalate deposits in kidney tissue and complications of nephrolithiasis (e.g., obstruction and infection) with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD and/or complications of oxalosis.  https://www.ncbi.nlm.nih.gov/books/NBK1283
From OMIM
Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. Affected individuals have decreased or absent AGXT activity and a failure to transaminate glyoxylate, which causes the accumulated glyoxylate to be oxidized to oxalate. This overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues, with pathologic sequelae (Takada et al., 1990; Danpure et al., 1989; Williams et al., 2009) Genetic Heterogeneity of Primary Hyperoxaluria Type II primary hyperoxaluria (HP2; 260000) is caused by mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (GRHPR; 604296) on chromosome 9. Type III primary hyperoxaluria (HP3; 613616) is caused by mutation in the mitochondrial dihydrodipicolinate synthase-like gene (DHDPSL; 613597) on chromosome 10q24.  http://www.omim.org/entry/259900
From GHR
Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.  https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria

Clinical features

Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.
Retinopathy
MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
An abnormal structure or function of the retina and its associated tissues.
Optic neuropathy
MedGen UID:
854546
Concept ID:
C3887709
Disease or Syndrome
Damage to the optic nerve.
Retinal crystals
MedGen UID:
892979
Concept ID:
C4072992
Finding
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Disease or Syndrome
Blood in the urine.
Hyperoxaluria
MedGen UID:
43782
Concept ID:
C0020500
Disease or Syndrome
Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Calcium oxalate urolithiasis
MedGen UID:
318935
Concept ID:
C1833683
Disease or Syndrome
Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts. Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%.
Intermittent claudication
MedGen UID:
7115
Concept ID:
C0021775
Disease or Syndrome
A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE.
Cutis marmorata
MedGen UID:
78093
Concept ID:
C0263401
Disease or Syndrome
A pink-blue mottled or marbled appearance of the skin secondary to exposure to cold temperatures, which is generally alleviated by rewarming.
Peripheral artery occlusive disease
MedGen UID:
266302
Concept ID:
C1306889
Disease or Syndrome
A narrowing of the peripheral arteries (i.e., of arteries other than those that supply the heart and the brain).
Atrioventricular block
MedGen UID:
374766
Concept ID:
C1841659
Disease or Syndrome
Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Peripheral neuropathy
MedGen UID:
141046
Concept ID:
C0442874
Disease or Syndrome
A disorder affecting the cranial nerves or the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.
Acrocyanosis
MedGen UID:
65138
Concept ID:
C0221347
Finding
Persistent, symmetric, and painless blue discoloration of the extremities. It is the result of vasospasm in response to cold. The affected areas are cold and sweaty.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Disease or Syndrome
Blood in the urine.
Hyperoxaluria
MedGen UID:
43782
Concept ID:
C0020500
Disease or Syndrome
Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Calcium oxalate urolithiasis
MedGen UID:
318935
Concept ID:
C1833683
Disease or Syndrome
Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts. Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%.
Gangrene
MedGen UID:
6546
Concept ID:
C0017086
Disease or Syndrome
A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Disease or Syndrome
Blood in the urine.
Hyperoxaluria
MedGen UID:
43782
Concept ID:
C0020500
Disease or Syndrome
Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Acid accumulation or depletion of base in the body due to buildup of metabolic acids.
Pathologic fracture
MedGen UID:
42095
Concept ID:
C0016663
Pathologic Function
A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
Increased bone mineral density
MedGen UID:
10502
Concept ID:
C0029464
Disease or Syndrome
Abnormally high bone density.
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Acrocyanosis
MedGen UID:
65138
Concept ID:
C0221347
Finding
Persistent, symmetric, and painless blue discoloration of the extremities. It is the result of vasospasm in response to cold. The affected areas are cold and sweaty.
Cutis marmorata
MedGen UID:
78093
Concept ID:
C0263401
Disease or Syndrome
A pink-blue mottled or marbled appearance of the skin secondary to exposure to cold temperatures, which is generally alleviated by rewarming.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.
Retinopathy
MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
An abnormal structure or function of the retina and its associated tissues.
Optic neuropathy
MedGen UID:
854546
Concept ID:
C3887709
Disease or Syndrome
Damage to the optic nerve.
Retinal crystals
MedGen UID:
892979
Concept ID:
C4072992
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Primary hyperoxaluria, type I in Orphanet.

Professional guidelines

PubMed

Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS; OxalEurope.
Nephrol Dial Transplant 2012 May;27(5):1729-36. doi: 10.1093/ndt/gfs078. PMID: 22547750

Recent clinical studies

Etiology

Khorsandi SE, Samyn M, Hassan A, Vilca-Melendez H, Waller S, Shroff R, Koffman G, Van't Hoff W, Baker A, Dhawan A, Heaton N
Pediatr Transplant 2016 Jun;20(4):523-9. Epub 2016 Apr 8 doi: 10.1111/petr.12705. PMID: 27061278
Moray G, Tezcaner T, Özçay F, Baskın E, Akdur A, Kırnap M, Yıldırım S, Arslan G, Haberal M
Exp Clin Transplant 2015 Apr;13 Suppl 1:145-7. PMID: 25894144
Tang X, Bergstralh EJ, Mehta RA, Vrtiska TJ, Milliner DS, Lieske JC
Kidney Int 2015 Mar;87(3):623-31. Epub 2014 Sep 17 doi: 10.1038/ki.2014.298. PMID: 25229337Free PMC Article
Compagnon P, Metzler P, Samuel D, Camus C, Niaudet P, Durrbach A, Lang P, Azoulay D, Duvoux C, Bayle F, Rivalan J, Merville P, Pascal G, Thervet E, Bensman A, Rostaing L, Deschenes G, Morcet J, Feray C, Boudjema K
Liver Transpl 2014 Dec;20(12):1475-85. doi: 10.1002/lt.24009. PMID: 25267365
Worcester EM, Evan AP, Coe FL, Lingeman JE, Krambeck A, Sommers A, Phillips CL, Milliner D
Am J Physiol Renal Physiol 2013 Dec 1;305(11):F1574-84. Epub 2013 Oct 2 doi: 10.1152/ajprenal.00382.2013. PMID: 24089413Free PMC Article

Diagnosis

Konkoľová J, Chandoga J, Kováčik J, Repiský M, Kramarová V, Paučinová I, Böhmer D
BMC Med Genet 2017 May 31;18(1):59. doi: 10.1186/s12881-017-0421-8. PMID: 28569194Free PMC Article
Strauss SB, Waltuch T, Bivin W, Kaskel F, Levin TL
Pediatr Radiol 2017 Jan;47(1):96-103. Epub 2016 Nov 14 doi: 10.1007/s00247-016-3723-7. PMID: 27844104
Richard E, Blouin JM, Harambat J, Llanas B, Bouchet S, Acquaviva C, de la Faille R
Ann Clin Biochem 2017 May;54(3):406-411. Epub 2017 Jan 10 doi: 10.1177/0004563216677101. PMID: 27742850
Pelle A, Cuccurullo A, Mancini C, Sebastiano R, Stallone G, Negrisolo S, Benetti E, Peruzzi L, Petrarulo M, De Marchi M, Marangella M, Amoroso A, Giachino D, Mandrile G
J Nephrol 2017 Apr;30(2):219-225. Epub 2016 Mar 5 doi: 10.1007/s40620-016-0287-4. PMID: 26946417
Tang X, Bergstralh EJ, Mehta RA, Vrtiska TJ, Milliner DS, Lieske JC
Kidney Int 2015 Mar;87(3):623-31. Epub 2014 Sep 17 doi: 10.1038/ki.2014.298. PMID: 25229337Free PMC Article

Therapy

Roncador A, Oppici E, Talelli M, Pariente AN, Donini M, Dusi S, Voltattorni CB, Vicent MJ, Cellini B
Nanomedicine 2017 Apr;13(3):897-907. Epub 2016 Dec 18 doi: 10.1016/j.nano.2016.12.011. PMID: 27993722
Dutta C, Avitahl-Curtis N, Pursell N, Larsson Cohen M, Holmes B, Diwanji R, Zhou W, Apponi L, Koser M, Ying B, Chen D, Shui X, Saxena U, Cyr WA, Shah A, Nazef N, Wang W, Abrams M, Dudek H, Salido E, Brown BD, Lai C
Mol Ther 2016 Apr;24(4):770-8. Epub 2016 Jan 13 doi: 10.1038/mt.2016.4. PMID: 26758691Free PMC Article
Martin-Higueras C, Luis-Lima S, Salido E
Mol Ther 2016 Apr;24(4):719-25. Epub 2015 Dec 22 doi: 10.1038/mt.2015.224. PMID: 26689264Free PMC Article
Moray G, Tezcaner T, Özçay F, Baskın E, Akdur A, Kırnap M, Yıldırım S, Arslan G, Haberal M
Exp Clin Transplant 2015 Apr;13 Suppl 1:145-7. PMID: 25894144
Compagnon P, Metzler P, Samuel D, Camus C, Niaudet P, Durrbach A, Lang P, Azoulay D, Duvoux C, Bayle F, Rivalan J, Merville P, Pascal G, Thervet E, Bensman A, Rostaing L, Deschenes G, Morcet J, Feray C, Boudjema K
Liver Transpl 2014 Dec;20(12):1475-85. doi: 10.1002/lt.24009. PMID: 25267365

Prognosis

Strauss SB, Waltuch T, Bivin W, Kaskel F, Levin TL
Pediatr Radiol 2017 Jan;47(1):96-103. Epub 2016 Nov 14 doi: 10.1007/s00247-016-3723-7. PMID: 27844104
Pelle A, Cuccurullo A, Mancini C, Sebastiano R, Stallone G, Negrisolo S, Benetti E, Peruzzi L, Petrarulo M, De Marchi M, Marangella M, Amoroso A, Giachino D, Mandrile G
J Nephrol 2017 Apr;30(2):219-225. Epub 2016 Mar 5 doi: 10.1007/s40620-016-0287-4. PMID: 26946417
Khorsandi SE, Samyn M, Hassan A, Vilca-Melendez H, Waller S, Shroff R, Koffman G, Van't Hoff W, Baker A, Dhawan A, Heaton N
Pediatr Transplant 2016 Jun;20(4):523-9. Epub 2016 Apr 8 doi: 10.1111/petr.12705. PMID: 27061278
Moray G, Tezcaner T, Özçay F, Baskın E, Akdur A, Kırnap M, Yıldırım S, Arslan G, Haberal M
Exp Clin Transplant 2015 Apr;13 Suppl 1:145-7. PMID: 25894144
Compagnon P, Metzler P, Samuel D, Camus C, Niaudet P, Durrbach A, Lang P, Azoulay D, Duvoux C, Bayle F, Rivalan J, Merville P, Pascal G, Thervet E, Bensman A, Rostaing L, Deschenes G, Morcet J, Feray C, Boudjema K
Liver Transpl 2014 Dec;20(12):1475-85. doi: 10.1002/lt.24009. PMID: 25267365

Clinical prediction guides

Konkoľová J, Chandoga J, Kováčik J, Repiský M, Kramarová V, Paučinová I, Böhmer D
BMC Med Genet 2017 May 31;18(1):59. doi: 10.1186/s12881-017-0421-8. PMID: 28569194Free PMC Article
Pelle A, Cuccurullo A, Mancini C, Sebastiano R, Stallone G, Negrisolo S, Benetti E, Peruzzi L, Petrarulo M, De Marchi M, Marangella M, Amoroso A, Giachino D, Mandrile G
J Nephrol 2017 Apr;30(2):219-225. Epub 2016 Mar 5 doi: 10.1007/s40620-016-0287-4. PMID: 26946417
Derveaux T, Delbeke P, Walraedt S, Raes A, Van Laecke S, Leroy BP, De Zaeytijd J
Retina 2016 Nov;36(11):2227-2235. doi: 10.1097/IAE.0000000000001058. PMID: 27135212
Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G; OxalEurope Consortium.
Kidney Int 2014 Dec;86(6):1197-204. Epub 2014 Jul 2 doi: 10.1038/ki.2014.222. PMID: 24988064
Kanoun H, Jarraya F, Hadj Salem I, Mahfoudh H, Chaabouni Y, Makni F, Hachicha J, Fakhfakh F
Gene 2013 Dec 1;531(2):451-6. Epub 2013 Sep 5 doi: 10.1016/j.gene.2013.08.083. PMID: 24012869

Recent systematic reviews

Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS; OxalEurope.
Nephrol Dial Transplant 2012 May;27(5):1729-36. doi: 10.1093/ndt/gfs078. PMID: 22547750

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