Congenital Oxaluria

Congenital Oxaluria

Article
Bone, Muscle, & Joint
Diseases & Conditions
+1
Contributed byKrish Tangella MD, MBAApr 05, 2018

The topic Congenital Oxaluria you are seeking is a synonym, or alternative name, or is closely related to the medical condition Primary Hyperoxaluria.

Quick Summary:

  • Primary Hyperoxaluria (PH) is a group of inherited metabolic disorders. It is characterized by recurrant stones formation in the urinary tract. The onset of the condition can occur any time between birth and 40 years of age
  • Primary Hyperoxaluria is categorized into types 1, 2, and 3, depending on the type of mutation involved that leads to a specific enzyme deficiency, resulting in the condition
  • Primary Hyperoxaluria is caused by mutations in AGXT, GRHPR, and HOGA1 genes, which cause the types 1, 2, and 3, respectively. Normally, the gene products are involved in the breakdown of glyoxylates. The mutations cause aberrant gene products, thereby preventing the breakdown of glyoxylate
  • Excess glycoxylate leads to accumulation of oxalate. The kidneys excrete the excess oxalate; the remainder in the kidneys combines with calcium to form crystals. The crystals aggregate to form kidney stones
  • Since Primary Hyperoxaluria is an inherited condition, a positive family history is a major risk factor for being diagnosed with it. It is inherited in an autosomal recessive fashion
  • Generally, individuals with type 1 disorder exhibit the most severe symptoms, followed by those with type 2 and type 3 disorder. The symptoms may present itself in infancy or later in life
  • Symptoms in infancy may include increased concentration of oxalate in the urine, poor feeding, poor weight gain, kidney and bladder stones, blood in urine, urinary tract infections, abdominal pain, pain while passing urine, and progressive kidney malfunction
  • The type 1 Primary Hyperoxaluria onset in late childhood, adolescence, or adulthood may present with kidney stones and kidney failure. The symptoms of type 2 and type 3 Primary Hyperoxaluria are similar to those of type 1, but are less severe
  • In types 1 and 2, the kidneys may not be able to keep up wih the excretion of excess oxalate. This may lead to kidney dysfunction and failure, which can lead to oxalate starting to accumulate in other organs, blood vessels and bones, causing further symptoms
  • These include anemia, abnormally dense bones, bone fractures, enlarged liver and spleen, eye-related abnormalities, and skin problems and rashes. Type 3 Primary Hyperoxaluria has not been reported with systemic presentations
  • The diagnosis of Primary Hyperoxaluria is made through a physical examination, an assessment of symptoms, an evaluation of family medical history, imaging tests to check for kidney stones, biopsy of affected kidney tissue, analysis of bladder or kidney stones to rule out other medical conditions and molecular genetic testing
  • Some complications of Primary Hyperoxaluria are kidney failure and end-stage kidney disease (or ESRD). In type 1 disease, ESRD can occur any time in life; whereas in type 2, this complication typically occurs later in the life
  • The treatment options for Primary Hyperoxaluria are symptomatic. If the onset is in infancy, a team of specialists may be required to help the child develop normally. Medication to treat excess oxalate, surgery or other procedures to remove kidney stones, and transplantation of liver, kidney or both for advanced disease may be required
  • The prognosis is better, if Primary Hyperoxaluria is diagnosed early and treated promptly. The outcome is guarded for untreated type 1 disorder

Please find comprehensive information on Primary Hyperoxaluria regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA picture
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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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