2,8 dihydroxy-adenine urolithiasis

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2,8 dihydroxy-adenine urolithiasis
ICD-10 E79
ICD-9 277.2
OMIM 102600
DiseasesDB 32632

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File:Autorecessive.svg Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Synonyms and keywords: Adenine phosphoribosyltransferase deficiency; AMP pyrophorylase deficiency; APRT deficiency

Overview

2,8 dihydroxy-adenine urolithiasis is a genetic disorder, in which deficiency of the enzyme adenine phosphoribosyltransferase leads to nephrolithiasis, permanent kidney damage and eventually chronic renal failure.

Pathophysiology

Genetics

Epidemiology and Demographics

  • More than 300 individuals with this disorder have been reported so far, out of which two thirds were from Japan, and a substantial number from France and Iceland.
  • The estimated prevalence of APRT deficiency is 0.5 to 1 per 100,000 in the Caucasian population, 0.25 to 0.5 per 100,000 in the Japanese population and in Iceland the estimated point prevalence is 8.9/100,000 [1] [2]

Natural History, Complications and Prognosis

Complications

Diagnosis

Symptoms

Physical examination

Appearance

Vital signs

In advanced cases with signs of chronic renal failure,

Eyes

Heart

Lungs

Laboratory findings

Early recognition and treatment of APRT deficiency is crucial in preventing irreversible damage to the kidneys.

Urine tests

  • Stone analysis: 2,8 DHA crystals are readily detectable in the urine.
  • Crystalluria: The small and medium sized crystals have a central maltese cross pattern on polarized light microscopy whereas the large crystals do not as they are impermeable to light .

Blood tests

  • APRT activity in hemolysates of erythrocytes.

X ray

  • 2,8 Dihydro adenine stones are radiolucent, hence not detected on X-ray films.

CT/ Ultrasonography

Infrared and Ultraviolet Spectrophotometry and/or X-ray Crystallography

  • Easily differentiates 2,8 DHA stones from uric acid stones.

Genetic testing

  • Identifying mutations in both copies of the APRT gene.

Treatment

Pharmacotherapy

Patient Education

  • Plenty of fluids
  • Dietary purine restriction.

Follow up

  • Patients treated with allopurinol can be followed up by monitoring urine microscopy.

Surgery and Device based therapy

  • Approximately 30% of patients require intervention for stone removal
    • Extracorporeal shock-wave lithotripsy,
    • Lithotomy and
    • Endourological procedures

References

  1. Kamatani N, Sonoda T, Nishioka K (1988). "Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan". The Journal of Urology. 140 (6): 1470–2. PMID 3193517. Unknown parameter |month= ignored (help)
  2. Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T (2001). "Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland". American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. 38 (3): 473–80. PMID 11532677. Unknown parameter |month= ignored (help)

See also

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