Familial juvenile nephronophthisis and medullary cystic disease

Pedreira, Frank A.; Marmer, Ellen L.; Bergstrom, William H.

doi:10.1016/s0022-3476(68)80041-1

Cited by 22 publications

(5 citation statements)

References 17 publications

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“…These two conditions are mainly differentiated by the familial nature and an onset in childhood of familial juvenile nephronophthisis, while medullary cystic disease is recorded to occur sporadicallyand to involvean older age-group. These differences have not been consistently observed and in our two patients, as is true in other reports [16][17][18][19], the two disorders ap pear to be inseparable on clinical and patho physiologic grounds. For those reasons, and in agreement with the suggestion of Mongeau and Worthen [18].…”

Section: Discussionsupporting

confidence: 51%

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Nephronophthisis

Bh¹,

Rn²,

Lb³

et al. 1977

Nephron

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Nephronophthisis (previously described as familial juvenile nephronophthisis and medullary cystic disease) is characterized by insidious renal failure, its main features being increased urinary sodium loss, pitressin-resistant hypotonic polyuria, polydipsia, normal urine sediment and absence of hypertension. Renal function and histologic studies were performed in a family in which two siblings had this disorder, while the parents and two other siblings appeared clinically normal. Both parents demonstrated a moderate impairment of maximum urinary concentration. The values for tubular free water reabsorption (TcH₂O) were relatively normal in the parents and the healthy siblings. One of the index patients showed only minimal sodium wasting even though he had hyposthenuria, thus suggesting an involvement of the collecting ducts in the early stage of nephronophthisis. No evidence of proximal tubular dysfunction was found. Although the light-microscopic examination of renal biopsies from the parents and the healthy siblings was unremarkable, electron microscopy revealed probable abnormalities in all four. An autosomal recessive mode of inheritance is, therefore, suggested in this family. The etiology of nephronophthisis is obscure but a likely possibility is that the renal damage results from an inborn metabolic error.

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Section: Discussionsupporting

confidence: 51%

“…It has been suggested that these two disorders are indeed indistinguish able [17][18][19] and they both should be included under the term 'nephronophthisis' until more is known about their etiological factors [18]. However, Gardner [20] feels the two diseases are separate entities.…”

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confidence: 99%

Nephronophthisis

Bh¹,

Rn²,

Lb³

et al. 1977

Nephron

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“…In some cases the discovery of a urinary concentrating defect (Pedreira et al, 1968) or electroretinographic changes (Polak et al, 1977) in one of the parents or siblings ofaffected offsprings has raised the question of a heterozygous state. No such signs of heterozygosity were found in our family.…”

Section: Discussionmentioning

confidence: 99%

Sector retinitis pigmentosa in juvenile nephronophthisis.

Godel¹,

Iaina²,

Nemet³

et al. 1980

British Journal of Ophthalmology

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SUMMARY In a patient with juvenile nephronophthisis, sector retinitis pigmentosa was found as an extrarenal manifestation, establishing a hitherto undescribed variety of retinal degeneration occurring in this disorder. The retinal function in this case was identical with that in the classic type of sector retinitis pigmentosa, namely, subnormal ERG amplitudes but normal cone and rod implicit times. The range of the retinal findings and their autosomal recessive transmission are discussed. Paucity of information makes it difficult to elucidate the basic genetic defect operating in this condition.Juvenile nephronophthisis (Fanconi et al., 1951) and medullary cystic disease (Smith and Graham, 1945) are hereditary conditions characterised clinically by failure to thrive, anaemia, hyposthenuria, and salt craving, followed by early uraemia. The consensus of most observers is that these diseases are identical, and owing to their clinical and pathological similarities they have been grouped together (Mongeau and Worthen, 1967).The presence of extrarenal manifestations in juvenile nephronophthisis is obvious (Mainzer et al., 1970;Boichis et al., 1973), and the most frequent allied condition is tapeto-retinal degeneration (Senior et al., 1961). There is ample evidence of such an association in familial cases, and it appears to be due to a pleiotropic effect of the gene involved and not a coincidence of symptoms. A common genetic background for the renal and retinal disorders has been postulated and autosomal recessive inheritance invoked.We dialysis. The onset of her renal disorder began 7 years earlier with a normocytic anaemia. Polydipsia and polyuria were observed clinically, and tests of kidney function showed impaired urinary concentrating abilities. Later a high blood urea and serum creatinine were found. A drip intravenous pyelogram showed poor excretion, though there was no anatomical defect. As kidney function deteriorated, a percutaneous kidney biopsy was performed. Findings included scattered medullary cysts and extensive glomerular destruction with interstitial fibrosis and hyalinisation. These histological findings confirmed the clinical suspicion of juvenile nephronophthisis, and the patient was signed up for a haemodialysis programme and future kidney transplant.She had no visual complaints and was unaware of any ocular disease. An audiogram indicated normal hearing function. She had normal visual acuity and the anterior segments were within normal limits. Ophthalmoscopy disclosed normal optic discs and free maculae. The central parts of the retinal vessels were of normal calibre. Symmetrical bonecorpuscule-like pigment clumps were found in the lower temporal quadrants of both eyes (Fig. 1). These abnormal areas of pigmentation were situated in the region of the equator and anterior to it. The retinal vessels were narrowed and disappeared towards the periphery. The pigment epithelium was atrophied. Colour vision was normal, but in the visual fields large scotomas were found bilaterally in the upper nasal qu...

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“…One severe form has been described in sibs (Handa and Tennant, 1968); this form has been equated with Fanconi's recessive juvenile nephronophthisis (Mongeau and Worthen, 1967;Pedreira, Marmer, and Bergstrom, 1968) but this identification is by no means proven. A milder form compatible with dominant inheritance occurred in the large kindred recorded by Goldman et al (1966).…”

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confidence: 99%