Rare Diseases Symptoms Automatic Extraction

Liver transplantation for primary hyperoxaluria type 1: a single-center experience during two decades in Japan.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type-1 (PH1) is an autosomal recessive disorder caused by impaired activity of hepatic peroxisomal alanine-glyoxylate aminotransferase that leads to end-stage renal disease (ESRD). A definitive diagnosis is often delayed until ESRD appears. Based on the etiology, liver transplantation (LT) seems to be the definitive treatment.Three PH1 patients underwent LT at our institution during two decades.Two of the patients had family histories of cryptogenic ESRD. All three showed disease onset in childhood, but the definitive diagnosis was delayed in two cases (17 and 37 years of age). These delayed cases resulted in ESRD, and hemodialysis (HD) had been introduced before LT. One patient received domino LT, and the other two underwent living-donor LT (LDLT). One patient finally died of sepsis, and was unable to receive a kidney transplantation (KT) after the domino LT. One patient did not show ESRD, and did not have to undergo KT after LDLT, although extracorporeal shock wave lithotripsy was required for residual ureterolithiasis (8 years after LDLT). The third patient had an uneventful course after LDLT and received living-donor KT from the same donor 8 months after LDLT. Subsequently, HD was successfully withdrawn.Establishment of a definitive diagnosis of PH1 is essential. If a methodology for early diagnosis and an intensive care strategy for neonates and infants during the waiting time become well-established, a timely and preemptive LT alone can provide a good chance of cure 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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