Adenine phosphoribosyltransferase deficiency

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Adenine phosphoribosyltransferase deficiency
Other namesAPRT deficiency or 2,8 Dihydroxyadenine urolithiasis
Dihydroxyadenine.png
Dihydroxyadenine, an insoluble purine
Specialty Endocrinology   OOjs UI icon edit-ltr-progressive.svg
Symptoms Kidney and urinary tract stones, Urinary tract infections, blood in the urine, and chronic kidney disease. [1]
Complications End-stage renal disease. [2]
Usual onsetInfancy to late adulthood. [2]
TypesType 1 [3] and type 2. [4]
CausesMutations in the APRT gene. [2]
Diagnostic method Urine microscopy and kidney stone analysis. [1]
Differential diagnosis Uric acid nephrolithiasis, Xanthinuria, and Primary hyperoxaluria. [1]
Medication Allopurinol. [1]
Frequency0.4% to 1.2% [1]

Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive metabolic disorder caused by mutations of the APRT gene. [5] Adenine phosphoribosyltransferase (APRT) catalyzes the creation of pyrophosphate and adenosine monophosphate from 5-phosphoribosyl-1-pyrophosphate and adenine. Adenine phosphoribosyltransferase is a purine salvage enzyme. Genetic mutations of adenine phosphoribosyltransferase make large amounts of 2,8-Dihydroxyadenine causing urolithiasis and renal failure. [6]

Contents

Adenine phosphoribosyltransferase deficiency has been classified into two types. Type one is caused by mutant alleles of APRT*Q0 and is found in individuals from many different countries. Type one causes a complete deficiency in vivo or in vitro. [3] Type two adenine phosphoribosyltransferase deficiency is caused by mutant alleles of APRT*J results in a full enzyme defiency in vivo but only a partial deficiency in cell extracts. Type two is mainly seen in Japan. [4]

APRT deficiency is often identified by the presence of dihydroxyadenine in urine and kidney stones. Other diagnostic tests for APRT deficiency include urine microscopy, kidney stone analysis, renal biopsy, APRT activity, and genetic testing. [7] Treatment of adenine phosphoribosyltransferase deficiency includes allopurinol and can prevent kidney stones and chronic kidney disease in most patients. [8]

Signs and symptoms

Adenine phosphoribosyltransferase deficiency commonly manifests as symptoms of the kidneys and urinary tract such as nephrolithiasis, urolithiasis, crystalline nephropathy, hematuria, acute kidney injury, chronic kidney disease, and Urinary tract infections. [9] No extrarenal symptoms have been documented. [10]

Adenine phosphoribosyltransferase deficiency can present at any age. Studies have shown that the age of diagnoses can vary from infancy to over the age of 70. [11] Some individuals with APRT deficiency remain completely asymptomatic and only get diagnosed because of familial screening. In 15% of adult cases present with renal failure requiring renal replacement therapy. [6] In some cases APRT deficiency is first diagnosed after a kidney transplant when complications arise. [12] [13] The first kidney stone episode can occur within the first few months of birth or later in life. [14] In infants APRT deficiency may manifest as reddish brown diaper stains. [15]

Patients with APRT deficiency typically have normal levels of plasma uric acid, gout and hyperuricemia have been reported in heterozygotes with a partial APRT deficiency. [16] [17]

Complications

Dihydroxyadenine crystals precipitate inside the interstitium and renal tubules as well as cause severe kidney damage. Dihydroxyadenine nephropathy can initially present acutely and lead to renal failure within days to weeks. More commonly dihydroxyadenine nephropathy may develop insidiously, causing a progressive decline in kidney function over the span of several years. Dehydration can trigger acute renal failure which causes urine supersaturation, oliguria, and precipitation of dihydroxyadenine. [10]

Causes

Adenine phosphoribosyltransferase deficiency has an autosomal recessive pattern of inheritance. Autorecessive.svg
Adenine phosphoribosyltransferase deficiency has an autosomal recessive pattern of inheritance.

Adenine phosphoribosyltransferase deficiency is an autosomal recessive condition [5] which means that two copies of the mutated gene must be present for adenine phosphoribosyltransferase deficiency to develop. [18]

Genetics

The adenine phosphoribosyltransferase (APRT) gene is found on chromosome 16 q24, contains five exons, encompasses 2.8 kb of DNA, and has a coding region of 540 bp. [19] Complete APRT deficiency develops in people who carry mutations in both copies of the APRT gene. [10]

There is no evidence that genotype correlates with phenotype and environmental factors or modifiers might be responsible for this heterogeneity. [20]

Mechanism

All tissues express the APRT enzyme, which offers the sole metabolic route for recovering adenine from dietary and polyamine biosynthesis sources. [21] Adenine can only be found in small amounts in blood and urine because APRT catalyzes the conversion of adenine and 5-phosphoribosyl-1-pyrophosphate into inorganic pyrophosphate and 5′-adenosine monophosphate. Adenine is transformed into 8-hydroxyadenine in people without functional APRT, and xanthine dehydrogenase (XDH), formerly known as xanthine oxydase, then further metabolizes this compound to dihydroxyadenine. [22] Due to its high renal clearance, dihydroxyadenine may be secreted tubularly in addition to being filtered. [23] Thus, APRT deficiency causes elevated dihydroxyadenine levels in the urine. [24] Dihydroxyadenine precipitates in renal parenchyma and becomes extremely insoluble in urine, forming crystals that can accumulate, grow, and form stones. [25] This can lead to crystalline nephropathy. [6]

Diagnosis

Adenine phosphoribosyltransferase deficiency is diagnosed based on the identification of dihydroxyadenine by kidney stone analysis or examination of crystals in the urine. [10] The combination of infrared spectroscopy and morphologic examination under a stereomicroscope allows for the identification of dihydroxyadenine in all cases of kidney stones and should be analyzed whenever one becomes available. [26] Biochemical stone analysis is unreliable for diagnosing APRT deficiency and is unable to distinguish dihydroxyadenine from uric acid. [10] For the identification of dihydroxyadenine crystals, light and polarizing microscopy examination of crystalluria is a very helpful, noninvasive, and reasonably priced method. The most concentrated urine samples come from morning urine voids, which are ideal for studying crystalluria. [26] One way to quantify something is to count the number of crystals per volume unit, [26] which is higher in patients who are not receiving treatment. [6]

See also

Related Research Articles

<span class="mw-page-title-main">Kidney stone disease</span> Formation of mineral stones in the urinary tract

Kidney stone disease, also known as renal calculus disease, nephrolithiasis or urolithiasis, is a crystallopathy where a solid piece of material develops in the urinary tract. Renal calculi typically form in the kidney and leave the body in the urine stream. A small calculus may pass without causing symptoms. If a stone grows to more than 5 millimeters, it can cause blockage of the ureter, resulting in sharp and severe pain in the lower back or abdomen. A calculus may also result in blood in the urine, vomiting, or painful urination. About half of people who have had a renal calculus are likely to have another within ten years.

<span class="mw-page-title-main">Proteinuria</span> Presence of an excess of serum proteins in the urine

Proteinuria is the presence of excess proteins in the urine. In healthy persons, urine contains very little protein, less than 150 mg/day; an excess is suggestive of illness. Excess protein in the urine often causes the urine to become foamy. Severe proteinuria can cause nephrotic syndrome in which there is worsening swelling of the body.

<span class="mw-page-title-main">Allopurinol</span> Medication

Allopurinol is a medication used to decrease high blood uric acid levels. It is specifically used to prevent gout, prevent specific types of kidney stones and for the high uric acid levels that can occur with chemotherapy. It is taken orally or intravenously.

<span class="mw-page-title-main">Kidney failure</span> Disease where the kidneys fail to adequately filter waste products from the blood

Kidney failure, also known as end-stage kidney disease, is a medical condition in which the kidneys can no longer adequately filter waste products from the blood, functioning at less than 15% of normal levels. Kidney failure is classified as either acute kidney failure, which develops rapidly and may resolve; and chronic kidney failure, which develops slowly and can often be irreversible. Symptoms may include leg swelling, feeling tired, vomiting, loss of appetite, and confusion. Complications of acute and chronic failure include uremia, hyperkalaemia, and volume overload. Complications of chronic failure also include heart disease, high blood pressure, and anaemia.

<span class="mw-page-title-main">Kidney disease</span> Damage to or disease of a kidney

Kidney disease, or renal disease, technically referred to as nephropathy, is damage to or disease of a kidney. Nephritis is an inflammatory kidney disease and has several types according to the location of the inflammation. Inflammation can be diagnosed by blood tests. Nephrosis is non-inflammatory kidney disease. Nephritis and nephrosis can give rise to nephritic syndrome and nephrotic syndrome respectively. Kidney disease usually causes a loss of kidney function to some degree and can result in kidney failure, the complete loss of kidney function. Kidney failure is known as the end-stage of kidney disease, where dialysis or a kidney transplant is the only treatment option.

<span class="mw-page-title-main">Cystinuria</span> Amino acid metabolic disorder involving cystine stones forming in the kidneys, ureter, and bladder

Cystinuria is an inherited autosomal recessive disease characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureters, and bladder. It is a type of aminoaciduria. "Cystine", not "cysteine," is implicated in this disease; the former is a dimer of the latter.

<span class="mw-page-title-main">Lesch–Nyhan syndrome</span> Rare genetic disorder

Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births. The disorder was first recognized and clinically characterized by American medical student Michael Lesch and his mentor, pediatrician William Nyhan, at Johns Hopkins.

<span class="mw-page-title-main">Diabetic nephropathy</span> Chronic loss of kidney function

Diabetic nephropathy, also known as diabetic kidney disease, is the chronic loss of kidney function occurring in those with diabetes mellitus. Diabetic nephropathy is the leading causes of chronic kidney disease (CKD) and end-stage renal disease (ESRD) globally. The triad of protein leaking into the urine, rising blood pressure with hypertension and then falling renal function is common to many forms of CKD. Protein loss in the urine due to damage of the glomeruli may become massive, and cause a low serum albumin with resulting generalized body swelling (edema) so called nephrotic syndrome. Likewise, the estimated glomerular filtration rate (eGFR) may progressively fall from a normal of over 90 ml/min/1.73m2 to less than 15, at which point the patient is said to have end-stage renal disease. It usually is slowly progressive over years.

<span class="mw-page-title-main">Xanthinuria</span> Medical condition

Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase.

<span class="mw-page-title-main">Nephritic syndrome</span> Medical condition

Nephritic syndrome is a syndrome comprising signs of nephritis, which is kidney disease involving inflammation. It often occurs in the glomerulus, where it is called glomerulonephritis. Glomerulonephritis is characterized by inflammation and thinning of the glomerular basement membrane and the occurrence of small pores in the podocytes of the glomerulus. These pores become large enough to permit both proteins and red blood cells to pass into the urine. By contrast, nephrotic syndrome is characterized by proteinuria and a constellation of other symptoms that specifically do not include hematuria. Nephritic syndrome, like nephrotic syndrome, may involve low level of albumin in the blood due to the protein albumin moving from the blood to the urine.

<span class="mw-page-title-main">Renal tubular acidosis</span> Medical condition

Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body due to a failure of the kidneys to appropriately acidify the urine. In renal physiology, when blood is filtered by the kidney, the filtrate passes through the tubules of the nephron, allowing for exchange of salts, acid equivalents, and other solutes before it drains into the bladder as urine. The metabolic acidosis that results from RTA may be caused either by insufficient secretion of hydrogen ions into the latter portions of the nephron or by failure to reabsorb sufficient bicarbonate ions from the filtrate in the early portion of the nephron. Although a metabolic acidosis also occurs in those with chronic kidney disease, the term RTA is reserved for individuals with poor urinary acidification in otherwise well-functioning kidneys. Several different types of RTA exist, which all have different syndromes and different causes. RTA is usually an incidental finding based on routine blood draws that show abnormal results. Clinically, patients may present with vague symptoms such as dehydration, mental status changes, or delayed growth in adolescents.

<span class="mw-page-title-main">Adenine phosphoribosyltransferase</span> Mammalian protein found in Homo sapiens

Adenine phosphoribosyltransferase (APRTase) is an enzyme encoded by the APRT gene, found in humans on chromosome 16. It is part of the Type I PRTase family and is involved in the nucleotide salvage pathway, which provides an alternative to nucleotide biosynthesis de novo in humans and most other animals. In parasitic protozoa such as giardia, APRTase provides the sole mechanism by which AMP can be produced. APRTase deficiency contributes to the formation of kidney stones (urolithiasis) and to potential kidney failure.

<span class="mw-page-title-main">Hypouricemia</span> Medical condition

Hypouricemia or hypouricaemia is a level of uric acid in blood serum that is below normal. In humans, the normal range of this blood component has a lower threshold set variously in the range of 2 mg/dL to 4 mg/dL, while the upper threshold is 530 μmol/L (6 mg/dL) for women and 619 μmol/L (7 mg/dL) for men. Hypouricemia usually is benign and sometimes is a sign of a medical condition.

Phosphate nephropathy or nephrocalcinosis is an adverse renal condition that arises with a formation of phosphate crystals within the kidney's tubules. This renal insufficiency is associated with the use of oral sodium phosphate (OSP) such as C.B. Fleet's Phospho soda and Salix's Visocol, for bowel cleansing prior to a colonoscopy.   

<span class="mw-page-title-main">2,8-Dihydroxyadenine</span> Chemical compound

2,8-Dihydroxyadenine is a derivative of adenine which accumulates in 2,8 dihydroxy-adenine urolithiasis. The poorly soluble purine 2,8-dihydroxyadenine is excreted in the urine because of a deficiency in the adenine salvage enzyme adenine phosphoribosyltransferase. The defect is inherited as an autosomal recessive trait; the homozygous state is associated with high urinary levels of 2,8-dihydroxyadenine and with crystalluria, calculus formation, and potential nephrotoxicity. The condition primarily presents as renal obstructive disease, but some patients have presented with advanced kidney failure. Allopurinol therapy appears to be effective. 2, 8-dihydroxyadenine formation can be easily controlled with allopurinol, which is administered in a dose of 300 mg/day in adults in the absence of kidney failure.

<span class="mw-page-title-main">Uromodulin</span> Mammalian protein found in Homo sapiens

Uromodulin (UMOD), also known as Tamm–Horsfall protein (THP), is a zona pellucida-like domain-containing glycoprotein that in humans is encoded by the UMOD gene. Uromodulin is the most abundant protein excreted in ordinary urine.

<span class="mw-page-title-main">Nephrocalcinosis</span> Medical condition caused by the deposition of calcium salts in the kidneys

Nephrocalcinosis, once known as Albright's calcinosis after Fuller Albright, is a term originally used to describe the deposition of poorly soluble calcium salts in the renal parenchyma due to hyperparathyroidism. The term nephrocalcinosis is used to describe the deposition of both calcium oxalate and calcium phosphate. It may cause acute kidney injury. It is now more commonly used to describe diffuse, fine, renal parenchymal calcification in radiology. It is caused by multiple different conditions and is determined by progressive kidney dysfunction. These outlines eventually come together to form a dense mass. During its early stages, nephrocalcinosis is visible on x-ray, and appears as a fine granular mottling over the renal outlines. It is most commonly seen as an incidental finding with medullary sponge kidney on an abdominal x-ray. It may be severe enough to cause renal tubular acidosis or even end stage kidney disease, due to disruption of the kidney tissue by the deposited calcium salts.

Primary hyperoxaluria is a rare condition, resulting in increased excretion of oxalate, with oxalate stones being common.

Sickle cell nephropathy is a type of nephropathy associated with sickle cell disease which causes kidney complications as a result of sickling of red blood cells in the small blood vessels. The hypertonic and relatively hypoxic environment of the renal medulla, coupled with the slow blood flow in the vasa recta, favors sickling of red blood cells, with resultant local infarction. Functional tubule defects in patients with sickle cell disease are likely the result of partial ischemic injury to the renal tubules.

Fanconi syndrome or Fanconi's syndrome is a syndrome of inadequate reabsorption in the proximal renal tubules of the kidney. The syndrome can be caused by various underlying congenital or acquired diseases, by toxicity, or by adverse drug reactions. It results in various small molecules of metabolism being passed into the urine instead of being reabsorbed from the tubular fluid. Fanconi syndrome affects the proximal tubules, namely, the proximal convoluted tubule (PCT), which is the first part of the tubule to process fluid after it is filtered through the glomerulus, and the proximal straight tubule, which leads to the descending limb of loop of Henle.

References

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