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本文引用的文献

1
Successful cochlear implantation in a patient with MELAS syndrome.一名患有线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）综合征的患者成功接受人工耳蜗植入手术。
Am J Otol. 1999 Mar;20(2):187-90; discussion 190-1.
2
A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation.一例线粒体细胞病，具有MELAS典型的点突变，以严重局灶节段性肾小球硬化为主要临床表现。
Am J Nephrol. 1998;18(6):551-6. doi: 10.1159/000013406.
3
HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).与10号染色体短臂13区缺失相关的HDR综合征（甲状旁腺功能减退、感音神经性耳聋、肾发育异常）
Am J Med Genet. 1997 Dec 31;73(4):416-8. doi: 10.1002/(sici)1096-8628(19971231)73:4<416::aid-ajmg9>3.0.co;2-l.
4
Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome.与线粒体基因组点突变相关的双侧感音神经性听力损失
Laryngoscope. 1996 Jan;106(1 Pt 1):43-8. doi: 10.1097/00005537-199601000-00009.
5
Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.伴有肾功能不全和发育迟缓的常染色体隐性遗传性甲状旁腺功能减退症。
Arch Dis Child. 1991 Oct;66(10):1191-4. doi: 10.1136/adc.66.10.1191.
6
Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia.
N Engl J Med. 1992 Oct 8;327(15):1069-74. doi: 10.1056/NEJM199210083271506.
7
Familial nephrosis, nerve deafness, and hypoparathyroidism.
J Pediatr. 1977 Jul;91(1):61-4. doi: 10.1016/s0022-3476(77)80445-9.

线粒体细胞病表现为局灶节段性肾小球硬化、甲状旁腺功能减退、感音神经性耳聋和进行性神经疾病。

Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease.

作者信息

Hameed R, Raafat F, Ramani P, Gray G, Roper H P, Milford D V

机构信息

Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.

出版信息

Postgrad Med J. 2001 Aug;77(910):523-6. doi: 10.1136/pmj.77.910.523.

DOI:10.1136/pmj.77.910.523
PMID:11470934
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1742114/
Abstract

A 6 year old boy who presented with steroid unresponsive nephrotic syndrome is reported. He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness. The child progressed to end stage renal failure and was successfully managed by dialysis and cadaveric renal transplantation. He later developed progressive neurological deterioration and mitochondrial myopathy and neuropathy was diagnosed.

摘要

报告了一名6岁男孩，他患有类固醇抵抗性肾病综合征。发现他患有局灶节段性肾小球硬化症，并伴有甲状旁腺功能减退和感音神经性耳聋。该患儿进展为终末期肾衰竭，并通过透析和尸体肾移植成功治疗。他后来出现进行性神经功能恶化，被诊断为线粒体肌病和神经病变。