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Biomedical subjects

J Scheinman

Publications and source records attributed to J Scheinman.

8 recordsLinked to original sources
PubMed1998

Genetic renal disease.

Many genetic renal disease now have specific genetic definitions, allowing prognostication. Several glomerular basement membrane defects include Alport's syndrome and benign familial hematurias. Genetic tubular or interstitial structural defects likely include familial juvenile nephronophthisis, as well as the polycystic diseases. Hereditary metabolic diseases can result in storage processes and circulating lipid disorders, which result in progressive glomerular sclerosis. Hereditary metabolic errors result in products causing obstruction and interstitial damage. Other hereditary disorders cause hemodynamic process that result in renal damage. The vascular structural defects of Marfan syndrome, Alagille syndrome, neurofibromatosis, and Cockayne's syndrome can secondarily result in renal vascular destruction. An awareness of these hereditary disease pathways to renal disease is essential to primary care pediatrics.

Basement Membrane↗
PubMed1992

Prevalence and pathologic features of sickle cell nephropathy and response to inhibition of angiotensin-converting enzyme.

BACKGROUND: Nephropathy may develop in patients with sickle cell disease. We determined the prevalence of proteinuria and renal insufficiency in a group of patients with sickle cell disease and investigated the renal pathologic changes and the effects of an angiotensin-converting-enzyme inhibitor (enalapril) on protein excretion in patients found to have nephropathy. METHODS: We prospectively screened 381 patients with sickle cell disease for the presence of proteinuria and renal insufficiency. Renal biopsy and measurements of glomerular filtration rate, effective renal plasma flow, and urinary protein excretion were performed in 10 patients with mild nephropathy before and after the administration of enalapril, and again two to three weeks after its discontinuation. RESULTS: Of the 381 patients with sickle cell disease, 26 (7 percent) had serum creatinine concentrations above the normal range and 101 (26 percent) had proteinuria of at least 1+. The renal lesions in the 10 patients who had biopsies consisted of glomerular enlargement and perihilar focal segmental glomerulosclerosis. The mean (+/- SD) glomerular area in these patients was 28.7 +/- 4.1 x 10(3) micron 2, as compared with 15.8 +/- 4.3 x 10(3) micron 2 in 10 control patients without renal disease who had died of trauma (P less than 0.0001). During the administration of enalapril, the mean 24-hour urinary protein excretion decreased 57 percent (range, 23 to 79 percent) below the base-line value (P less than 0.001), and it increased to 25 percent below the base-line value after enalapril was discontinued. The glomerular filtration rate and effective renal plasma flow did not change significantly. CONCLUSIONS: Approximately 25 percent of patients with sickle cell disease have proteinuria. Treatment with enalapril reduces the degree of proteinuria in these patients, suggesting that glomerular capillary hypertension may be a pathogenic factor in sickle cell nephropathy.

Adult↗
PubMed1992

A clinicopathological study of ocular involvement in primary hyperoxaluria type I.

We performed a clinicopathological study on the eyes of a 3-year-old girl with primary hyperoxaluria type I. An examination one year before death disclosed a slightly diminished visual acuity in both eyes with black, geographic central macular, subretinal patches. Calcium oxalate was deposited predominantly in the retinal pigment epithelium of the posterior pole, where these cells were markedly hyperplastic and hypertrophied round foci of oxalate crystals. Oxalate crystals were exceedingly sparse in other ocular structures and when present were not associated with an apparent tissue reaction in these other locations. A collagenous layer was evident between parts of the retinal pigment epithelium and the neurosensory retina, which contained occasional perivascular clumps of melanin laden cells. The predominant deposition of oxalate in the retinal pigment epithelium, with the exuberant response of these cells around the crystals, gives a clue to the pathogenic mechanisms of primary hyperoxaluria.

Calcium Oxalate↗
PubMed1990

Ocular findings in primary hyperoxaluria.

Primary hyperoxaluria (primary oxalosis) is a rare autosomal recessive inborn error of glyoxylate metabolism that causes widespread calcium oxalate crystal deposition in diverse tissues. Because others have reported only occasional ocular involvement, we reviewed the ophthalmologic findings in our 24 patients with primary hyperoxaluria to document its funduscopic variability and to determine its visual prognosis and its possible systemic significance. Eight (30%) of our 24 patients with primary hyperoxaluria exhibited a bilaterally symmetrical retinopathy. The abnormalities were predominantly confined to the posterior pole and ranged from many small (100- to 200-microns) subretinal black ringlets to single large (2- to 3-disc diameter) geographic lesions. In 3 of the 8 patients with oxalate retinopathy, diffuse optic disc pallor was evident. Five patients with both normal-appearing optic discs and oxalate retinopathy had relatively good visual acuities. The maculopathy of primary hyperoxaluria caused mild visual impairment while optic nerve dysfunction associated with this disease appeared to be much visually debilitating. Also, the presence of oxalate maculopathy was associated with a more severe systemic course for the disease.

Acute Kidney Injury↗