Successful pre-emptive kidney transplantation in a cystinuria patient with nephrolithiasis-related end-stage renal disease

BackgroundCystinuria is a rare autosomal recessive metabolic disorder that affects renal and intestinal cystine transport. Cystine stones are found in only 1–2% of all stone formers. Patients with cystinuria are at high risk for nephrolithiasis and subsequent morbidity. In spite of the various medic...

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Published inRenal replacement therapy Vol. 5; no. 1; pp. 30 - 5
Main Authors Matsunami, Masatoshi, Kinoshita, Kazuya, Tanaka, Kiho, Nakamura, Yuki, Ohashi, Kenichi, Fujii, Takeshi, Ubara, Yoshifumi, Ishii, Yasuo
Format Journal Article
LanguageEnglish
Published London Springer Nature B.V 04.07.2019
BMC
Subjects
Abscesses
Age
Asymptomatic
Blood groups
Creatinine
Cystinuria
Cytomegalovirus
ESRD
Hydration
Hypertension
Infections
Kidney diseases
Kidney stones
Kidney transplantation
Kidney transplants
Nephrolithiasis
Patients
Potassium
Pre-emptive
Veins & arteries
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Summary:BackgroundCystinuria is a rare autosomal recessive metabolic disorder that affects renal and intestinal cystine transport. Cystine stones are found in only 1–2% of all stone formers. Patients with cystinuria are at high risk for nephrolithiasis and subsequent morbidity. In spite of the various medical and surgical treatments that are currently available for cystinuria, some patients gradually develop kidney failure, with only a few reported cases regarding kidney transplantation (KTx) to treat end-stage renal disease (ESRD) secondary to cystinuria. Cystinuria is likely not to be a systemic disease; thus, renal replacement with transplantation seems a good therapeutic option for ESRD. However, few cystinuria patients have undergone KTx due to ESRD.Case presentationWe herein describe the case of a 49-year-old man with cystinuria, frequent stone events, and ESRD who underwent pre-emptive ABO-incompatible kidney transplantation. At 2 years and 6 months post-transplantation, the patient remains asymptomatic with no prophylactic therapy for cystinuria, and the allograft function has been preserved without evidence of rejection.ConclusionsIn conclusion, a cystinuria patient with nephrolithiasis-related ESRD was successfully treated by transplantation. Although additional cases are required to confirm the efficacy of this approach, renal replacement may be useful for treating ESRD in patients with rare hereditary forms of kidney stone disease.
ISSN:2059-1381
2059-1381
DOI:10.1186/s41100-019-0226-7