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

Postgraduate Medical Journal

Volumn 77, Issue 910, 2001, Pages 523-526

  Hameed, R ^a   Raafat, F ^a   Ramani, P ^c   Gray, G ^a   Roper, H P ^b   Milford, D V ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^b BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^c NONE

Author keywords

Focal and segmental glomerulosclerosis; Mitochondrial myopathy; Neuropathy; Renal transplantation

Indexed keywords

ARTICLE; CASE REPORT; CYTOPATHOLOGY; DIALYSIS; FOCAL GLOMERULOSCLEROSIS; HUMAN; HUMAN TISSUE; HYPOPARATHYROIDISM; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; MITOCHONDRIAL MEMBRANE; MITOCHONDRIAL MYOPATHY; NEPHROTIC SYNDROME; NEUROLOGIC DISEASE; NEUROPATHY; PERCEPTION DEAFNESS; PRESCHOOL CHILD;

BLOTTING, SOUTHERN; CHILD; CONSANGUINITY; GENES, RECESSIVE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HEARING LOSS, SENSORINEURAL; HUMANS; HYPOPARATHYROIDISM; KIDNEY FAILURE, CHRONIC; KIDNEY TRANSPLANTATION; MALE; MITOCHONDRIAL MYOPATHIES; NERVOUS SYSTEM DISEASES; PERITONEAL DIALYSIS; POLYMERASE CHAIN REACTION;

EID: 0034885532     PISSN: 00325473     EISSN: None     Source Type: Journal    
DOI: 10.1136/pmj.77.910.523     Document Type: Article

References (7)

1. Familial nephrosis, nerve deafness, and hypoparathyroidism
2. Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay
3. Brief report: Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia
4. HDR syndrome (hypoparathyroidism, sensorineural deafness, renaldysplasia) associated with del (10) (p 13)
5. Bilateral sensorineral hearing loss associated with the point mutation in mitochondrial genome
6. Successful cochlear implantation in a patient with MELAS syndrome
7. A case of mitochondrial cytopathy with a typical point mutation MELAS, presenting with severe focal glomerulosclerosis as main clinical manifestations