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Adenine phosphoribosyltransferase deficiency(APRTD)

MedGen UID:
82772
Concept ID:
C0268120
Disease or Syndrome
Synonyms: APRTD; Dihydroxyadeninuria; NEPHROLITHIASIS, DHA; UROLITHIASIS, 2,8-DIHYDROXYADENINE; UROLITHIASIS, DHA
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Adenine phosphoribosyl transferase deficiency (124274002); Deficiency of AMP pyrophorylase (124274002)
 
Gene: APRT
Cytogenetic location: 16q24.3
OMIM®: 614723

Disease characteristics

Excerpted from the GeneReview: Adenine Phosphoribosyltransferase Deficiency
Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production of and urinary excretion of 2,8-dihydroxyadenine (DHA) leading to kidney stone formation and chronic kidney disease. Kidney stones, the most common clinical manifestation of APRT deficiency, can occur at any age; in at least 50% of individuals symptoms do not occur until adulthood. In a significant number of individuals, intratubular precipitation of DHA crystals can result in renal failure (i.e., DHA crystalline nephropathy).  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Vidar Orn Edvardsson  |  Runolfur Palsson  |  Amrik Sahota   view full author information

Additional descriptions

From OMIM
APRT deficiency is an autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the kidney, which results in crystalluria and the formation of urinary stones. Clinical features include renal colic, hematuria, urinary tract infection, dysuria, and, in some cases, renal failure. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic (summary by Sahota et al., 2001). Two types of APRT deficiency have been described based on the level of residual enzyme activity in in vitro studies of erythrocytes. Type I deficiency is characterized by complete enzyme deficiency in intact cells and in cell lysates, whereas type II deficiency is characterized by complete enzyme deficiency in intact cells, but only a partial deficiency in cell lysates. Type II alleles show reduced affinity for phosphoribosyl pyrophosphate (PRPP) compared to wildtype. In both types, APRT activity is not functional in vivo. Type II deficiency is most common among Japanese. Heterozygotes of either type do not appear to have any clinical or biochemical abnormalities (summary by Sahota et al., 2001).  http://www.omim.org/entry/614723
From GHR
Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine. Affected individuals can develop features of this condition anytime from infancy to late adulthood. When the condition appears in infancy, the first sign is usually the presence of tiny grains of reddish-brown material in the baby's diaper caused by the passing of stones. Later, recurrent kidney and urinary tract stones can lead to problems with kidney function beginning as early as mid- to late childhood. Approximately half of individuals with APRT deficiency first experience signs and symptoms of the condition in adulthood. The first features in affected adults are usually kidney stones and related urinary problems. Other signs and symptoms of APRT deficiency caused by kidney and urinary tract stones include fever, urinary tract infection, blood in the urine (hematuria), abdominal cramps, nausea, and vomiting. Without treatment, kidney function can decline, which may lead to end-stage renal disease (ESRD). ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. The features of this condition and their severity vary greatly among affected individuals, even among members of the same family. It is estimated that 15 to 20 percent of people with APRT deficiency do not have any signs or symptoms of the condition.  http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency

Clinical features

Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Recurrent urinary tract infections
MedGen UID:
500878
Concept ID:
CN000011
Finding
Repeated infections of the urinary tract.
Renal insufficiency
MedGen UID:
427392
Concept ID:
CN000083
Finding
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.
Nephropathy
MedGen UID:
504346
Concept ID:
CN000110
Finding
A nonspecific term referring to disease or damage of the kidneys.
Nephrolithiasis
MedGen UID:
504597
Concept ID:
CN000736
Finding
The presence of calculi (stones) in the kidneys.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Recurrent urinary tract infections
MedGen UID:
500878
Concept ID:
CN000011
Finding
Repeated infections of the urinary tract.

Recent clinical studies

Etiology

Kaartinen K, Hemmilä U, Salmela K, Räisänen-Sokolowski A, Kouri T, Mäkelä S
J Am Soc Nephrol 2014 Apr;25(4):671-4. Epub 2014 Jan 23 doi: 10.1681/ASN.2013090960. [Epub ahead of print] PMID: 24459232Free PMC Article
Harambat J, Bollée G, Daudon M, Ceballos-Picot I, Bensman A; APRT Study Group
Pediatr Nephrol 2012 Apr;27(4):571-9. Epub 2012 Jan 3 doi: 10.1007/s00467-011-2037-0. [Epub ahead of print] PMID: 22212387
Bollée G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, Deteix P, Daudon M, Knebelmann B, Ceballos-Picot I
J Am Soc Nephrol 2010 Apr;21(4):679-88. Epub 2010 Feb 11 doi: 10.1681/ASN.2009080808. [Epub ahead of print] PMID: 20150536Free PMC Article
Kamatani N, Hakoda M, Otsuka S, Yoshikawa H, Kashiwazaki S
J Clin Invest 1992 Jul;90(1):130-5. doi: 10.1172/JCI115825. PMID: 1353080Free PMC Article
Sahota A, Chen J, Asaki K, Takeuchi H, Stambrook PJ, Tischfield JA
Nucleic Acids Res 1990 Oct 11;18(19):5915-6. PMID: 1977137Free PMC Article

Diagnosis

Kaartinen K, Hemmilä U, Salmela K, Räisänen-Sokolowski A, Kouri T, Mäkelä S
J Am Soc Nephrol 2014 Apr;25(4):671-4. Epub 2014 Jan 23 doi: 10.1681/ASN.2013090960. [Epub ahead of print] PMID: 24459232Free PMC Article
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. [Epub ahead of print] PMID: 22700886
Harambat J, Bollée G, Daudon M, Ceballos-Picot I, Bensman A; APRT Study Group
Pediatr Nephrol 2012 Apr;27(4):571-9. Epub 2012 Jan 3 doi: 10.1007/s00467-011-2037-0. [Epub ahead of print] PMID: 22212387
Bollée G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, Deteix P, Daudon M, Knebelmann B, Ceballos-Picot I
J Am Soc Nephrol 2010 Apr;21(4):679-88. Epub 2010 Feb 11 doi: 10.1681/ASN.2009080808. [Epub ahead of print] PMID: 20150536Free PMC Article
Iwaki T, Kusaka T, Ohashi I, Nishida T, Imai T, Itoh S
Pediatr Nephrol 2010 Jun;25(6):1173-6. Epub 2010 Jan 26 doi: 10.1007/s00467-009-1430-4. [Epub ahead of print] PMID: 20101413

Therapy

Kaartinen K, Hemmilä U, Salmela K, Räisänen-Sokolowski A, Kouri T, Mäkelä S
J Am Soc Nephrol 2014 Apr;25(4):671-4. Epub 2014 Jan 23 doi: 10.1681/ASN.2013090960. [Epub ahead of print] PMID: 24459232Free PMC Article
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. [Epub ahead of print] PMID: 22700886
Harambat J, Bollée G, Daudon M, Ceballos-Picot I, Bensman A; APRT Study Group
Pediatr Nephrol 2012 Apr;27(4):571-9. Epub 2012 Jan 3 doi: 10.1007/s00467-011-2037-0. [Epub ahead of print] PMID: 22212387
Eller P, Rosenkranz AR, Mark W, Theurl I, Laufer J, Lhotta K
Clin Nephrol 2004 Mar;61(3):217-21. PMID: 15077874
Simmonds HA, Van Acker KJ, Cameron JS, McBurney A
Adv Exp Med Biol 1977;76B:304-11. PMID: 857624

Prognosis

Edvardsson VO, Goldfarb DS, Lieske JC, Beara-Lasic L, Anglani F, Milliner DS, Palsson R
Pediatr Nephrol 2013 Oct;28(10):1923-42. Epub 2013 Jan 20 doi: 10.1007/s00467-012-2329-z. [Epub ahead of print] PMID: 23334384Free PMC Article
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. [Epub ahead of print] PMID: 22700886
Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T
Am J Kidney Dis 2001 Sep;38(3):473-80. PMID: 11532677
Takeuchi H, Kaneko Y, Fujita J, Yoshida O
J Urol 1993 Apr;149(4):824-6. PMID: 8455250
Maddocks JL, Al-Safi SA
Clin Sci (Lond) 1988 Aug;75(2):217-20. PMID: 3409638

Clinical prediction guides

Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. [Epub ahead of print] PMID: 22700886
Terai C, Hakoda M, Yamanaka H, Kamatani N, Okai M, Takahashi F, Kashiwazaki S
Clin Genet 1995 Nov;48(5):246-50. PMID: 8825602
Kamatani N, Hakoda M, Otsuka S, Yoshikawa H, Kashiwazaki S
J Clin Invest 1992 Jul;90(1):130-5. doi: 10.1172/JCI115825. PMID: 1353080Free PMC Article
Maddocks JL, Al-Safi SA
Clin Sci (Lond) 1988 Aug;75(2):217-20. PMID: 3409638
Kelley WN, Levy RI, Rosenbloom FM, Henderson JF, Seegmiller JE
J Clin Invest 1968 Oct;47(10):2281-9. doi: 10.1172/JCI105913. PMID: 5676523Free PMC Article

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