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2
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Am J Kidney Dis. 2006 Aug;48(2):221-30. doi: 10.1053/j.ajkd.2006.04.085.
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Hypercalcaemia in association with trisomy 21 (Down's syndrome).与21三体综合征（唐氏综合征）相关的高钙血症。
J Clin Pathol. 2002 Jul;55(7):543-4. doi: 10.1136/jcp.55.7.543.
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Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.伴有继发性低钙血症的低镁血症由TRPM基因家族的新成员TRPM6突变引起。
Nat Genet. 2002 Jun;31(2):166-70. doi: 10.1038/ng889. Epub 2002 May 28.
7
Trisomy 21 with hypercalcemia, hypercalciuria, medullary calcinosis and renal failure--a syndrome?
Pediatr Nephrol. 2001 Jan;16(1):99-100.
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Another toddler with Down syndrome, nephrocalcinosis, hypercalcemia, and hypercalciuria.
Pediatr Nephrol. 1998 Jun;12(5):432.
9
Hypercalcaemia, hypercalciuria and nephrocalcinosis in Down syndrome.
Pediatr Nephrol. 1996 Aug;10(4):543-4.
10
A toddler with Down syndrome, hypercalcaemia, hypercalciuria, medullary nephrocalcinosis and renal failure.
Pediatr Nephrol. 1996 Apr;10(2):251. doi: 10.1007/BF00862098.

唐氏综合征高钙血症的A、B、C、D要点

The A, B, C, D of hypercalcaemia in Down syndrome.

作者信息

Tran Huy A, Song Shuzhen, Crock Patricia A, Mattes John, Howard Keith

机构信息

Hunter Area Pathology Service, Clinical Chemistry, Locked Bag 1, HRMC, Newcastle, New South Wales, 2310, Australia.

出版信息

BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.06.2008.0232. Epub 2009 Mar 5.

DOI:10.1136/bcr.06.2008.0232
PMID:21686893
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3030300/
Abstract

Hypercalcaemia in infants with Down syndrome is an uncommon condition with only five previous case reports. The patients often present in the toddler years with the classical triad of Down syndrome, biochemical hypercalcaemia, and nephrocalcinosis. We present the sixth case and second male with this condition and further review the clinical details of this under-recognised condition and stratify the diagnostic criteria. The management mandates a reduction in calcium intake as a first step. The natural history of the various aspects of this condition is also considered.

摘要

唐氏综合征婴儿的高钙血症是一种罕见病症，此前仅有五例病例报告。这些患者通常在幼儿期出现，伴有唐氏综合征、生化性高钙血症和肾钙质沉着症的典型三联征。我们报告第六例该病症患者及第二例男性患者，并进一步回顾这一未得到充分认识病症的临床细节，对诊断标准进行分层。治疗的第一步是减少钙摄入量。同时还考虑了该病症各方面的自然病程。