Congenital Nephropathy Associated with Hearing Loss, Ocular Abnormalities, Mental Retardation, Convulsions and Abnormal E. E. G

Hirooka, Minoru; Kubota, Naoki; Ohno, Tadasi

doi:10.1620/tjem.98.329

Cited by 9 publications

(3 citation statements)

References 38 publications

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“…OMN has also been described in children with multiple anomalies [6,9,10]. The present case was accompanied with malrotated kidneys, expanded extrarenal pelvis, and hearing loss, which were similarly reported previously as congenital anomalies [9,10]. Thus, in addition to the renal pathological findings, these multiple anomalies contributed to the diagnosis of this renal disorder as OMN.…”

Section: Discussionsupporting

confidence: 86%

“…Recent studies have indicated that certain genetic factors might be involved in the occurrence of OMN [6][7][8]. OMN has also been described in children with multiple anomalies [6,9,10]. The present case was accompanied with malrotated kidneys, expanded extrarenal pelvis, and hearing loss, which were similarly reported previously as congenital anomalies [9,10].…”

Section: Discussionsupporting

confidence: 84%

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Oligomeganephronia in an adult without end stage renal failure

et al. 2011

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A 23 year-old male was investigated for hypertension, moderate renal insufficiency, persistent proteinuria and bilateral small kidneys. The renal pathological features were diagnostic with greatly enlarged glomeruli (the mean diameter was 325 μm, which was approximately two times larger than normal glomeruli), indicating oligomeganephronia (OMN). He also showed malrotated kidneys, expanded extrarenal pelvis, and hearing loss. Thus, these clinical and pathological features aided in diagnosing the renal disorder as OMN. This is a very rare case of OMN, which did not advance to end-stage renal failure as an adult. We believe that multiple anomalies might be suggestive findings of OMN in patients, such as renal insufficiency, persistent proteinuria, and bilateral small kidneys.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionsupporting

confidence: 84%

Oligomeganephronia in an adult without end stage renal failure

et al. 2011

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“…Such findings were noted several times in further articles (L~bken et al, 1961;Shinoda et al, 1968;Proesmans et al, 1978). Hearing loss, brain maldevelopment, convulsions and abnormal EEGs, were observed in this type of nephropathy (Hirooka et al, 1969). Cerebellar dysfunctions were mentioned (Dekaban, 1969), and features of cerebellar ataxia were documented in two sibs presenting various other abnormalities associated with the renal syndrome (Mainzer et al, 1970).…”

Section: Extrarenal Manifestationsmentioning

confidence: 89%

Hereditary renal-retinal dysplasia

Godel¹,

Iaina²,

Nemet³

et al. 1980

Doc Ophthalmol

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Juvenile nephronophthisis and medullary cystic diseases are inherited kidney disorders leading to end stage uremia. As these diseases appear to be identical, they were grouped together in nephronophthisis-cystic renal medulla complex. Among its extrarenal manifestations, tapeto-retinal degeneration is the most frequent allied condition. This specific association of the renal and retinal conditions, suggesting a genetic background, is called hereditary renal-retinal dysplasia and is transmitted as an autosomal recessive trait. There are some variations in the type of the retinal degeneration in renal-retinal dysplasia and similar basic genetic mechanisms may results in Leber's congenital amaurosis, or retinitis pigmentosa, central retinal degeneration or stationary congenital night blindness. Pleiotropism seems to be responsible for the spectrum of these anomalies. Occasional expression in the heterozygous state by urinary concentrating disabilities or electroretinographic impairments were documented. The nature and pathogenesis of renal-retinal dysplasia remain a debated issue, but some evidence supports the possibility of an inborn error of metabolism causing the basic defects.

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Familial Renal-Retinal Dystrophy

Senior¹

1973

Arch Pediatr Adolesc Med

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Congenital Nephropathy Associated with Hearing Loss, Ocular Abnormalities, Mental Retardation, Convulsions and Abnormal E. E. G

Cited by 9 publications

References 38 publications

Oligomeganephronia in an adult without end stage renal failure

Oligomeganephronia in an adult without end stage renal failure

Hereditary renal-retinal dysplasia

Familial Renal-Retinal Dystrophy

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