Combined split liver and kidney transplantation in a three-year-old child with primary hyperoxaluria type 1 and complete thrombosis of the inferior vena cava.
PH1 is an inborn error of the metabolism in which a functional deficiency of the liver-specific peroxisomal enzyme, AGT, causes hyperoxaluria and hyperglycolic aciduria. Infantile PH1 is the most aggressive form of this disease, leading to early nephrocalcinosis, systemic oxalosis, and end-stage renal failure. Infantile PH1 is rapidly fatal in children unless timely liver-kidney transplantation is performed to correct both the hepatic enzyme defect and the renal end-organ damage. The surgical procedure can be further complicated in infants and young children, who are at higher risk for vascular anomalies, such as IVC thrombosis. Although recently a limited number of children with IVC thrombosis have underwent successful kidney transplantation, successful multi-organ transplantation in a child with complete IVC thrombosis is quite rare. We report here the interesting and technically difficult case of a three-yr-old girl with a complete thrombosis of the IVC, who was the recipient of combined split liver and kidney transplantation for infantile PH1. Although initial delayed renal graft function with mild-to-moderate acute rejection was observed, the patient rapidly regained renal function after steroid boluses, and was soon hemodialysis-independent, with good diuresis. Serum and plasma oxalate levels progressively decreased; although, to date they are still above normal. Hepatic and renal function indices were at, or approaching, normal values when the patient was discharged 15-wk post-transplant, and the patient continues to do well, with close and frequent follow-up. This is the first report of a successful double-organ transplant in a pediatric patient presenting with infantile PH1 complicated by complete IVC thrombosis.
University of Pittsburgh School of Medicine, Medical Scientist Training Program, Pittsburgh, PA, USA.
Zahida
Z
Khan
Marco
M
Sciveres
Paola
P
Salis
Marida
M
Minervini
Giuseppe
G
Maggiore
Giuseppe
G
Maggione
Davide
D
Cintorino
Silvia
S
Riva
Bruno
B
Gridelli
Francesco
F
Emma
Marco
M
Spada
D002675:Child, Preschool; D003131:Combined Modality Therapy; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006959:Hyperoxaluria / Q000150:complications / Q000151:congenital / Q000175:diagnosis; D006960:Hyperoxaluria, Primary; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000601:surgery; D016030:Kidney Transplantation / Q000009:adverse effects / Q000379:methods*; D017093:Liver Failure / Q000209:etiology / Q000601:surgery; D016031:Liver Transplantation / Q000009:adverse effects / Q000379:methods*; D008991:Monitoring, Physiologic / Q000379:methods; D011182:Postoperative Care / Q000379:methods; D011183:Postoperative Complications / Q000175:diagnosis / Q000628:therapy; D011300:Preoperative Care / Q000379:methods; D011859:Radiography; D018570:Risk Assessment; D012720:Severity of Illness Index; D000637:Transaminases / Q000172:deficiency; D016896:Treatment Outcome; D014682:Vena Cava, Inferior; D020246:Venous Thrombosis / Q000150:complications* / Q000000981:diagnostic imaging
D000637:Transaminases