ArticleIJU case reports2020
Living-donor kidney transplantation for a patient with hypoparathyroidism, deafness, and renal dysplasia syndrome.
Article in IJU case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene.Frontiers in endocrinology · 2025Article
- Case report: a case of hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome.Frontiers in genetics · 2025Article
- Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome.Journal of endocrinological investigation · 2024Article
- Hypocalcemia not related to chronic kidney disease: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- Living-donor kidney transplantation for a patient with hypoparathyroidism, deafness, and renal dysplasia syndrome.IJU case reports · 2020Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
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Abstract
introductionHypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome is an autosomal dominant rare genetic disease. Some patients with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome may present with renal calcification (nephrocalcinosis) and disorder. We report the first case of living-donor kidney transplantation for a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome. CASE PRESENTATION: This case pertains to a 26-year-old woman who was diagnosed with congenital hypoparathyroidism 1 month after birth, following which vitamin D supplementation was initiated. In 20XX, she developed nephrocalcinosis and was confirmed to have a
conclusionOver intake of vitamin D caused nephrocalcinosis. The renal function was improved after living-donor kidney transplantation and the patient's serum calcium levels normalized without vitamin D supplementation. Therefore, kidney transplantation should be considered a treatment option for patients with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.
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