title: Successful staged kidney and liver transplantation for glycogen storage disease type Ib: A case report.
abstract: Glycogen storage disease type Ib is a rare metabolic disease caused by a defect of the G6P transporter. Patients suffer from hypoglycemic episodes; growth and developmental delay; osteoporosis; neutropenia; and tendency to infections, ovarian cysts, and liver adenomas. Terminal kidney disease is a rare complication. Liver transplantation has been performed to prevent malignant transformation of hepatic adenomas. We present the case of a female patient with glycogenosis type Ib who had severe hypoglycemic episodes and recurrent infections since early childhood. She became dialysis dependent at the age of 24 years. Kidney transplantation was performed at age 30, and liver transplantation 2 years later. The main indication for liver transplantation were the persistent, therapy-refractory hypoglycemic episodes. The transplanted kidney function is stable. The liver transplantation resulted in the disappearance of hypoglycemic episodes, with the patient leading a normal life and eating a normal diet. The neutropenia did not recover, but there were no more significant infectious episodes after liver transplantation. This is, to the best of our knowledge, the first communication of a dual kidney and liver transplant performed in a patient with glycogenosis type Ib. It confirmed the beneficial effect of liver transplantation on the quality of life of patients with severe hypoglycemia. The transplantation should be attempted earlier in the course of the disease to reduce complications and allow catch-up growth. Hepatocyte transplantation may be considered; however, long-term results seem to be rather poor in the few documented cases.
authors.affiliation: Department of Visceral and Transplant Surgery, Universitätsklinik Leipzig, Leipzig, Sachsen, Germany.
authors.forename: A P
authors.initials: AP
authors.lastname: Martin
authors.forename: M
authors.initials: M
authors.lastname: Bartels
authors.forename: S
authors.initials: S
authors.lastname: Schreiber
authors.forename: P
authors.initials: P
authors.lastname: Buehrdel
authors.forename: J
authors.initials: J
authors.lastname: Hauss
authors.forename: J
authors.initials: J
authors.lastname: Fangmann
mesh_terms: D000328:Adult; D001706:Biopsy; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000473:pathology / Q000523:psychology / Q000601:surgery*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D016030:Kidney Transplantation; D008099:Liver / Q000473:pathology; D016031:Liver Transplantation; D009765:Obesity / Q000209:etiology; D016896:Treatment Outcome