Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review.

Autor: Pintus G; Hypertension Unit, Department of Medicine-DIMED, Padova University Hospital, University of Padova, 35128 Padua, Italy.; Department of Clinical, Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, 00185 Rome, Italy., Vitturi N; Division of Metabolic Diseases, Department of Medicine, Padova University Hospital, University of Padova, 35128 Padua, Italy., Carraro G; Nephrology, Dialysis and Transplant Unit, Department of Medicine, Padova University Hospital, University of Padova, 35128 Padua, Italy., Lenzini L; Hypertension Unit, Department of Medicine-DIMED, Padova University Hospital, University of Padova, 35128 Padua, Italy., Gugelmo G; Division of Metabolic Diseases, Department of Medicine, Padova University Hospital, University of Padova, 35128 Padua, Italy., Fasan I; Division of Clinical Nutrition, Department of Medicine-DIMED, Padova University Hospital, University of Padova, 35128 Padua, Italy., Madinelli A; Division of Metabolic Diseases, Department of Medicine, Padova University Hospital, University of Padova, 35128 Padua, Italy., Burlina A; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, Padova University Hospital, University of Padova, 35128 Padua, Italy., Avogaro A; Division of Metabolic Diseases, Department of Medicine, Padova University Hospital, University of Padova, 35128 Padua, Italy., Calò LA; Nephrology, Dialysis and Transplant Unit, Department of Medicine, Padova University Hospital, University of Padova, 35128 Padua, Italy.
Jazyk: angličtina
Zdroj: Journal of clinical medicine [J Clin Med] 2024 Jul 23; Vol. 13 (15). Date of Electronic Publication: 2024 Jul 23.
DOI: 10.3390/jcm13154304
Abstrakt: Background: Methylmalonic Aciduria (MA) without homocystinuria (or isolated MA) is a group of rare inherited metabolic disorders which leads to the accumulation of methylmalonic acid (MMA), a toxic molecule that accumulates in blood, urine, and cerebrospinal fluid, causing acute and chronic complications including metabolic crises, acute kidney injury (AKI), and chronic kidney disease (CKD). Detailed Case Description: Herein, we report a case of a 39-year-old male with MA and stage IV CKD who experienced acute metabolic decompensation secondary to gastrointestinal infection. The patient underwent a single hemodialysis (HD) session to correct severe metabolic acidosis unresponsive to medical therapy and to rapidly remove MMA. The HD session resulted in prompt clinical improvement and shortening of hospitalization.
Discussion: MMA accumulation in MA patients causes acute and life-threatening complications, such as metabolic decompensations, and long-term complications such as CKD, eventually leading to renal replacement therapy (RRT). Data reported in the literature show that, overall, all dialytic treatments (intermittent HD, continuous HD, peritoneal dialysis) are effective in MMA removal. HD, in particular, can be useful in the emergency setting to control metabolic crises, even with GFR > 15 mL/min. Kidney and/or liver transplantations are often needed in MA patients. While a solitary transplanted kidney can be rapidly affected by MMA exposure, with a decline in renal function even in the first year of follow-up, the combined liver-kidney transplantation showed better long-term results due to a combination of reduced MMA production along with increased urinary excretion.
Conclusions: Early diagnosis, multidisciplinary management and preventive measures are pivotal in MA patients to avoid recurrent AKI episodes and, consequently, to slow down CKD progression.
Databáze: MEDLINE
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