同: adenine phosphoribosyltransferase

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〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/07/08 23:57:09」(JST)

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Adenine phosphoribosyltransferase deficiency (also called APRT deficiency or 2,8 dihydroxyadenine urolithiasis) is an autosomal recessive^[1] metabolic disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase.^[2]

Characteristics[edit]

The disorder results in accumulation of the insoluble purine 2,8-dihydroxyadenine.^[3]

It can result in nephrolithiasis (kidney stones), acute renal failure and permanent kidney damage.

More than 300 individuals with this disease have been reported world-wide but it is not known how common this medical problem truly is. Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking down dietary substances called purines, resulting in accumulation of a compound called 2,8-dihydroxyadenine (2,8-DHA) that is excreted by the kidneys. Interestingly, up to 70% of affected patients, have red hair or relatives with this hair color.

Genetics[edit]

Adenine phosphoribosyltransferase deficiency has an autosomal recessive pattern of inheritance.

APRT deficiency is inherited in an autosomal recessive manner.^[1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

Signs and symptoms[edit]

Most patients with APRT deficiency have repeated episodes of kidney stones that are not detected by a conventional x-ray study. However, all stones are easily detected by other medical imaging methods such as ultrasound or computerized tomography (CT) scan. A minority of patients develop symptoms of kidney failure. Kidney stones are often associated with severe loin or abdominal pain. Symptoms associated with kidney failure are largely nonspecific such as increased fatigue and weakness, poor appetite, and weight loss. Children with the disease may have similar symptoms as adults. In young children, APRT deficiency can cause reddish-brown diaper spots.

References[edit]

^ ^a ^b Kamatani, N (December 1996). "Adenine phosphoribosyltransferase(APRT) deficiency" (Free full text). Nippon rinsho. Japanese journal of clinical medicine 54 (12): 3321–7. ISSN 0047-1852. PMID 8976113.
^ Terai, C; Hakoda, M; Yamanaka, H; Kamatani, N; Okai, M; Takahashi, F; Kashiwazaki, S (November 1995). "Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation". Clinical genetics 48 (5): 246–50. doi:10.1111/j.1399-0004.1995.tb04098.x. ISSN 0009-9163. PMID 8825602.
^ Funato, T; Nishiyama, Y; Ioritani, N; Matsuki, R; Yoshida, K; Kaku, M; Sasaki, T; Ideguchi, H; Ono, J (2000). "Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system". Journal of clinical laboratory analysis 14 (6): 274–9. doi:10.1002/1098-2825(20001212)14:6<274::AID-JCLA5>3.0.CO;2-2. ISSN 0887-8013. PMID 11138609.

External links[edit]

Adenine phosphoribosyltransferase deficiency at NIH's Office of Rare Diseases
APRT at the Rare Kidney Stones Consortium

This genetic disorder article is a stub. You can help Wikipedia by expanding it.

English Journal

Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.

Valaperta R, Rizzo V, Lombardi F, Verdelli C, Piccoli M, Ghiroldi A, Creo P, Colombo A, Valisi M, Margiotta E, Panella R, Costa E.
BMC nephrology.BMC Nephrol.2014 Jul 1;15(1):102. [Epub ahead of print]
BACKGROUND: Adenine phosphoribosyltransferase deficiency (APRTD) is an under estimated genetic form of kidney stones and/or kidney failure, characterized by intratubular precipitation of 2,8-dihydroxyadenine crystals (2,8-DHA). Currently, five pathologic allelic variants have been identified as resp
PMID 24986359

Inborn errors of purine metabolism: clinical update and therapies.

Balasubramaniam S1, Duley JA, Christodoulou J.
Journal of inherited metabolic disease.J Inherit Metab Dis.2014 Jun 28. [Epub ahead of print]
Inborn errors of purine metabolism exhibit broad neurological, immunological, haematological and renal manifestations. Limited awareness of the phenotypic spectrum, the recent descriptions of newer disorders and considerable genetic heterogeneity, have contributed to long diagnostic odysseys for aff
PMID 24972650

2,8-dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.

Ceballos-Picot I1, Daudon M, Harambat J, Bensman A, Knebelmann B, Bollée G.
Nucleosides, nucleotides & nucleic acids.Nucleosides Nucleotides Nucleic Acids.2014 Apr 4;33(4-6):241-52. doi: 10.1080/15257770.2013.853780.
Adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low solubility of DHA results in precipitation and formation of urinary crystals and kidney stones. The disease can
PMID 24940675

Japanese Journal

2,8-Dihydroxyadenine結石症の1例

泌尿器科紀要 = Acta urologica Japonica 61(7), 279-283, 2015-07
NAID 120005646477

痙攣と精神運動遅滞を主訴としたhypoxanthine-guanine phosphoribosyltransferase部分欠損症の1例

臨床神経学 54(11), 892-896, 2014
NAID 130004706047

Hypoxanthine-guanine phosphoribosyltransferase部分欠損症の1例:―高度関節破壊を認めた症例―

昭和学士会雑誌 73(1), 43-47, 2013
NAID 130005056844

「deficiency」

Adenine phosphoribosyltransferase deficiency
	Classification and external resources
	; Dihydroxyadenine, an insoluble purine
ICD-10	E79
ICD-9	277.2
OMIM	102600
DiseasesDB	32632