Diagnosis after acute renal failure.

Medical Curriculum Vitae

Primary Hyperoxaluria Type 1 Diagnosis

• 40 years of completely normal life.
• Between 40 - 50 years of age, there were 2 renal colics. In both cases, kidney stone composition analysis was neglected. This was the first "cardinal" mistake, as it could have indicated high oxalate values, revealing my PH1 disease.
• At age 57, I underwent a colon cancer operation, removing about 35 cm of the rectum and creating an artificial outlet (later reversed after 6 weeks). Although the cancer treatment was successful, my kidney values worsened during postoperative care. Doctors initially considered this a normal side effect, but despite drinking 2-3 liters of water daily, my kidney function declined due to fluid loss from the artificial outlet. A kidney biopsy was considered but not performed—this was the second "cardinal" mistake, as it could have detected high oxalate levels in time.
• After a 3-month hospital stay, no cause for my high kidney values (around 7 mg/dl creatinine) was found, and I was urgently referred to a nephrologist.
• The nephrologist performed a kidney biopsy after one week of tests. Results showed extensive oxalate deposits, confirming Primary Hyperoxaluria. My creatinine values worsened (exceeding 10 mg/dl), and I became a dialysis patient.
• Due to the rarity of Primary Hyperoxaluria (1 in 1 million), my case was referred to the Children's Hospital at the University of Bonn, where a specialized department conducted extensive examinations, including genetic analysis. The diagnosis confirmed a congenital metabolic disorder causing excess oxalate production in the liver, classified as Primary Hyperoxaluria Type 1.
• Testing of my three siblings revealed that one brother also had PH1, allowing early intervention to prevent kidney failure. Approximately 25-50% of siblings are typically affected.
• There are few medications for this disease, but high doses of vitamin B6 have significantly limited my oxalate deposits, benefiting both my brother and me. Thanks to this treatment, I am now registered with Eurotransplant and am in my 7th year of dialysis, awaiting a kidney transplant.

Recommendation

Always analyze kidney stones to ensure timely PH diagnosis and treatment.