Preemptive Liver–Kidney Transplantation in Von Gierke Disease: A Case Report

Marega, Alessandra; Cleo, Fregonese; Tulissi, P.; Vallone, C.; Gropuzzo, M; Toniutto, Pierluigi; Baccarani, Umberto; Bresadola, F; Toso, Francesco; Montanaro, Domenico

doi:10.1016/j.transproceed.2011.03.003

Cited by 21 publications

(13 citation statements)

References 7 publications

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“…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]. According to the authors of this study, uremic GSD1a patients with or without adenomas should be considered for early CLKT.…”

Section: Methylmalonic Acidemiamentioning

confidence: 92%

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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Section: Methylmalonic Acidemiamentioning

confidence: 92%

Combined liver and kidney transplantation in children

Jalanko

Pakarinen

2013

Pediatr Nephrol

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“…[37][38][39][40] Liver transplant (LT) or a combined liver and kidney transplant is needed in some cases. [41][42][43] Menorrhagia appears to be a problem in females of reproductive age with GSD I. 44,45…”

Section: Clinical Historymentioning

confidence: 99%

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Kishnani

Austin

Abdenur

et al. 2014

Genetics in Medicine

358

554

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“…As G6PC is hydrophobic, it is difficult to isolate in an active, soluble form that would facilitate its administration to patients (5). Case reports have revealed that liver-kidney transplantation may rectify the metabolic disorder associated with GSD-Ia (13,14). However, liver-kidney transplantation brings with it associated risks and challenges.…”

Section: Discussionmentioning

confidence: 99%

Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia

Lü

Li-yin

et al. 2016

Molecular Medicine Reports

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Glycogen storage disease type‑Ia (GSD‑Ia) is a rare autosomal recessive disease caused by a mutation in the gene encoding glucose‑6‑phosphate‑α (G6PC). The present study reported the case of a 3‑month‑old female Chinese patient with GSD‑Ia born to consanguineous parents. The aim of the present study was to identify the precise mutation of the G6PC gene associated with this family and to describe the phenotypic characteristics of the patient. A comprehensive examination was performed on the patient, including physical examination, vein blood gas analysis, abdominal sonography and biochemical analyses. In addition, gene sequencing was performed on the coding region of the G6PC gene to identify the mutation. The patient was diagnosed with GSD‑Ia and a G6PC missense mutation of c.518T>C (p.L173P) located in a highly conserved area was identified. The mutation is in a non‑helical region of the protein, which previous studies have suggested should result in a lesser effect on G6PC enzymatic activity and milder phenotypic characteristics compared with mutations located in helical regions. However, the severity of the disease phenotype in the subject of the present study was inconsistent with that predicted from her genotype. The patient suffered from serious hypoglycemia, lactic acidosis, increased triglycerides, hepatic dysfunction, clear hepatomegaly and nephromegaly. The incidence of the p.L173P mutation may be relatively high in the Chinese population. Knowledge of the various phenotypic presentations of the p.L173P mutation may beneficial for future investigations.

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Preemptive Liver–Kidney Transplantation in Von Gierke Disease: A Case Report

Cited by 21 publications

References 7 publications

Combined liver and kidney transplantation in children

Combined liver and kidney transplantation in children

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia

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