Excellent renal function and reversal of nephrocalcinosis 8 years after isolated liver transplantation in an infant with primary hyperoxaluria type 1.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type 1 (PH-1 ) is a rare autosomal recessive disease caused by the absence or deficiency of the liver -specific intermediary metabolic enzyme alanine glyoxylate aminotransferase . The prognosis of this metabolic disease is poor . Theoretically , the primary metabolic defect can be cured by liver transplantation . However , controversy exists around the age and stage of the disease that liver transplantation should be performed . We report on a patient who presented at the early age of 2 months with nephrocalcinosis . Isolated liver transplantation was performed at the age of 21 months . Eight years later , the estimated glomerular filtration rate was 85 ml /min /1 .73 m (2 ), and imaging studies did not reveal nephrocalcinosis . This case report supports the strategy of early isolated liver transplantation in patients with PH-1 .

Diseases
Validation

Diseases presenting "early age" symptom

achondroplasia

aniridia

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

cowden syndrome

dentin dysplasia

junctional epidermolysis bullosa

kabuki syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

papillon-lefÃ¨vre syndrome

primary hyperoxaluria type 1

severe combined immunodeficiency

werner syndrome

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