Rare Diseases Symptoms Automatic Extraction

Adult with primary hyperoxaluria type 1 regrets not receiving preemptive liver transplantation during childhood: report of a case.

[primary hyperoxaluria type 1]

A 32-year-old male was suspected to have primary hyperoxaluria type 1 (PH1) and eventually underwent liver transplantation (LT). He was diagnosed with nephrolithiasis at 9 years of age. Right heminephrectomy was performed for a staghorn calculus. He underwent urethrotomy for urinary retention at 12 years of age. Percutaneous nephrolithotomy was performed for nephrolithiasis when he was 16 years of age. He underwent frequent extracorporeal shock wave lithotripsy for recurrent nephrolithiasis from 18 to 24 years of age. PH1 was suspected at 32 years of age, and pharmacological therapy was also initiated. He developed renal failure at 36 years of age, which was treated with intensive hemodialysis. A definitive diagnosis of PH1 was made based on a liver needle biopsy 1 month later. He received a living-donor LT at 38 years of age, and a living-donor kidney transplant from the same donor 8 months later. Though he made a good recovery, an early diagnosis and preemptive LT are important for PH1 patients.

Diseases presenting "early diagnosis" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • aromatase deficiency
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dentin dysplasia
  • dentinogenesis imperfecta
  • dracunculiasis
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • gm1 gangliosidosis
  • hirschsprung disease
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • inclusion body myositis
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • krabbe disease
  • locked-in syndrome
  • monosomy 21
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • phenylketonuria
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • triple a syndrome
  • typhoid
  • von hippel-lindau disease
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome

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