Medullary cystic disease in two siblings

Nephronophthisis

“…These features have been previously observed by others [16,33] and the latter may represent the precursors of microcysts.…”

“…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].…”

“…and T. S. who showed mark; increases in collecting duct basement met brane thickness also showed greatest impa ment of TCH2O. Structural abnormalities were also noted by Herdman et al [16] who found on microdissection studies that large cysts were confined to medullary collecting ducts. Ivemark et al [6] and Sherman et al [33] reported similar findings along with involvement of Henle's loops.…”

“…Medullary cystic disease of the kidneys originally reported by Smith and Graham [10] in 1945 presents a similar clinical and pathol ogic picture [10][11][12][13][14][15][16]. 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].…”

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

“…These microscopic findings of the kidney of our own patient were entirely different from those of familial juvenile nephronophthisis, and rather resembled "l'hypoplasie renale bilaterale avec oligomegranephronie", which was first presented by Rover, Habib and Leclerc in 1966.49 The similar symptoms have been described in medullary cystic disease of the kidney, which were reported chiefly in the United States9-14 and finally was concluded to be the same disease as familial juvenile nephronophthisis. [12][13][14] Some cases of familial juvenile nephronophthisis and of medullary cystic disease of the kidney have been reported to be accompanied by ocular abnormalities such as tapetoretinal degeneration, etc. [15][16][17][18] The symptoms of our patient resembled in some respects familial juvenile nephronophthisis, showing growth retardation, anemia, polyuria and polydipsia since early childhood, insidious renal insufficiency without hematuria, pyuria and proteimuria, and chorioretinal degeneration, etc.…”