Nephronophthisis and medullary cystic disease

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.…”

Ultrasonographic diagnosis of medullary cystic disease.

“…maintain that these hvo entities should be considered one and the same because of their fundamental similarities and minimal differences . 12 Most reviews of this subject concur with the latter opinion. 2 • 9 · 13 Pathologic findings in patients with MCD are variable and depend upon the source of the tissue.…”

“…Renal biopsy most commonly reveals interstitial fibrosis and cellular infiltration, tubular atrophy and dilatation, and periglomerular fibrosis. ll.. 12 Because these findings are nonspecific, needle biopsy is usually not diagnostic and is often interpreted as chronic pyelonephritis or interstitial fibrosis.…”

Nephrology: Encouraging Self-Study Among Patients of Non-Medical Scientific Professionals

“…This include urinary concentrating defects or diminishing urinary concentration ability, abnormal urinalysis without protein, blood and formed elements in the urine of certain patients, renal salt or sodium wasting where kidney fails to handle sodium or other salts normally, aminoaciduria with the urinary excretion of typical amino acids like proline etc. [12] Frequency of 60% cases are detected with anemia and hypertension hat may lead to weakness and pallor. [13] Another 40% of the reported cases are mainly confined to children and adolescents with disordered bone growth or metabolism and parathyroid gland pathology-related hyperplasia.…”