Simultaneous liver-kidney transplantation for glycogen storage disease type IA (von Gierke's disease)

Panaro, Fabrizio; Andorno, Enzo; Basile, Giovanna; Morelli, N; Bottino, G; Fontana, I.; Bertocchi, M.; DiDomenico, S; Miggino, Marco; Saltalamacchia, L; Ghinolfi, Davide; Bonifazio, L; Jarzembowski, Tomasz; Valente, Umberto

doi:10.1016/j.transproceed.2004.05.070

Cited by 25 publications

(14 citation statements)

References 12 publications

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“…Managing renal function after LT in GSD Ia patients is challenging because (1) the mechanisms of how and which forms of metabolic derangement lead to renal dysfunction are not clear [25], (2) some but not all patients develop renal damage after LT (Table 3) [18], and (3) differentiating intrinsic renal dysfunction associated with GSD 1a from the impact of nephrotoxic calcineurin inhibitor therapy is difficult. In fact, case reports of simultaneous liver-kidney transplantation for hepatic adenomatosis and ESRD [36] and poor metabolic control [37,38] have reported good long-term hepatic and renal function.…”

Section: Discussionmentioning

confidence: 99%

Liver transplantation for glycogen storage disease type Ia

Reddy

Austin

Spencer‐Manzon

et al. 2009

Journal of Hepatology

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Section: Discussionmentioning

confidence: 99%

Liver transplantation for glycogen storage disease type Ia

Reddy

Austin

Spencer‐Manzon

et al. 2009

Journal of Hepatology

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“…Should grafting be indicated, combined liver-kidney graft has been discussed when renal function is already compromised and successfully performed in a few cases [113,114]. …”

Section: Management Including Treatment [1263094]mentioning

confidence: 99%

Glucose-6-phosphatase deficiency

Froissart

Piraud

Boudjemline

et al. 2011

Orphanet J Rare Dis

190

159

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Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, between the ages of 3 to 4 months by symptoms of hypoglycemia (tremors, seizures, cyanosis, apnea). Patients have poor tolerance to fasting, marked hepatomegaly, growth retardation (small stature and delayed puberty), generally improved by an appropriate diet, osteopenia and sometimes osteoporosis, full-cheeked round face, enlarged kydneys and platelet dysfunctions leading to frequent epistaxis. In addition, in GSDIb, neutropenia and neutrophil dysfunction are responsible for tendency towards infections, relapsing aphtous gingivostomatitis, and inflammatory bowel disease. Late complications are hepatic (adenomas with rare but possible transformation into hepatocarcinoma) and renal (glomerular hyperfiltration leading to proteinuria and sometimes to renal insufficiency). GSDI is caused by a dysfunction in the G6P system, a key step in the regulation of glycemia. The deficit concerns the catalytic subunit G6P-alpha (type Ia) which is restricted to expression in the liver, kidney and intestine, or the ubiquitously expressed G6P transporter (type Ib). Mutations in the genes G6PC (17q21) and SLC37A4 (11q23) respectively cause GSDIa and Ib. Many mutations have been identified in both genes,. Transmission is autosomal recessive. Diagnosis is based on clinical presentation, on abnormal basal values and absence of hyperglycemic response to glucagon. It can be confirmed by demonstrating a deficient activity of a G6P system component in a liver biopsy. To date, the diagnosis is most commonly confirmed by G6PC (GSDIa) or SLC37A4 (GSDIb) gene analysis, and the indications of liver biopsy to measure G6P activity are getting rarer and rarer. Differential diagnoses include the other GSDs, in particular type III (see this term). However, in GSDIII, glycemia and lactacidemia are high after a meal and low after a fast period (often with a later occurrence than that of type I). Primary liver tumors and Pepper syndrome (hepatic metastases of neuroblastoma) may be evoked but are easily ruled out through clinical and ultrasound data. Antenatal diagnosis is possible through molecular analysis of amniocytes or chorionic villous cells. Pre-implantatory genetic diagnosis may also be discussed. Genetic counseling should be offered to patients and their families. The dietary treatment aims at avoiding hypoglycemia (frequent meals, nocturnal enteral feeding through a nasogastric tube, and later oral addition of uncooked starch) and acidosis (restricted fructose and galactose intake). Liver transplantation, performed on the basis of poor metabolic control and/or hepatoc...

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“…Long-term complications include renal disease (mostly focal segmental glomerulosclerosis), osteoporosis, pulmonary hypertension, gout, short stature, and hepatocellular adenomas, all of which may undergo malignant transformation. Isolated LT has been successfully performed in patients with multiple adenomas or with poor metabolic control of the disease, and a small number of GSD1a patients with ESRD have undergone a successful CLKT [44]. Recently, preemptive CLKT has also been performed in a GSD1a patient showing rapid normalization of glucose and lipid metabolism [45].…”

Section: Methylmalonic Acidemiamentioning

confidence: 99%

Combined liver and kidney transplantation in children

Jalanko

Pakarinen

2013

Pediatr Nephrol

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Simultaneous combined liver-kidney transplantation (CLKT) is a rare operation in pediatric patients so that annually only 10-30 operations are performed worldwide. The main indications for CLKT are primary hyperoxaluria type 1 and autosomal recessive polycystic kidney disease. In addition, CLKT is indicated in individual patients with metabolic or cirrhotic liver diseases and end-stage kidney disease. The surgery and immediate post-operative management of CLKT remain challenging in infants and small children. The patients should be operated on before they become severely ill or develop major systemic manifestations of their metabolic disorder. The liver allograft is immunologically protective of the kidney graft in simultaneous CLKT, often resulting in well-preserved kidney function. The long-term outcome after CLKT is nowadays comparable to that of isolated liver and kidney transplantations.

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Simultaneous liver-kidney transplantation for glycogen storage disease type IA (von Gierke's disease)

Cited by 25 publications

References 12 publications

Liver transplantation for glycogen storage disease type Ia

Liver transplantation for glycogen storage disease type Ia

Glucose-6-phosphatase deficiency

Combined liver and kidney transplantation in children

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