A family study was undertaken to investigate genetic involvement in renal dysplasia, which is defined as abnormal metanephric differentiation. Probands were ascertained through the retrospective examination of necropsy records and the reevaluation of available material, which included microscopic examinations of the kidneys, gross descriptions of organs, and gross photographs. We obtained family histories and performed physical examinations and renal ultrasonography on parents and sibs of the 21 probands. In only one family a sibling with renal dysplasia was discovered; both the proband and the previous stillborn sib had renal dysplasia in association with posterior urethral values. Renal dysplasia could have resulted from urinary tract obstruction secondary to the urethral valves, with inheritance of the valves as the primary abnormality. However, we cannot exclude primary inheritance of the renal abnormality, perhaps with multifactorial determination with a threshold. The empiric recurrence risk of 2.1%, calculated from this family study, was statistically not significantly different from zero. We can assume, therefore, that the multicystic and aplastic types of renal dysplasia, which predominated in this study, are sporadic or rarely familial, but certain other types of renal dysplasia, identified in the literature as familial, probably carry a higher recurrence risk.

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The glomerular basement membranes (GBM) were measured in 264 patients with recurrent and persistent hematuria (152 males, 112 females), 47 patients with minimal change nephrotic syndrome (26 males, 21 females), and 91 patients with focal segmental glomerular sclerosis and nephrotic syndrome (55 males, 36 females). The average number of glomeruli measured was 2.5 per case. Analysis of the data showed GBM thickness to be significantly greater in males (n = 233) than in females (n = 169) (Student's t-test, P less than 0.01). There was no difference in GBM thickness between the two groups of nephrotics; the data were subsequently combined and the group referred to as idiopathic nephrotic syndrome. There was also no difference in GBM thickness among the immunofluorescence-defined subcategories of recurrent hematuria, and these groups were combined. GBM thickness was significantly greater in the idiopathic nephrotic syndrome than in recurrent hematuria (Kruskal-Wallis H test, Po = less than 0.001). Analysis of the data showed, in both conditions, a gradual increase with age throughout the span of the study (1-69 years). Regression analysis of GBM thickness and age in recurrent hematuria showed Ro = 0.43 and Po = less than 0.001, in idiopathic nephrotic syndrome Ro = 0.61 and Po = less than 0.001. The differences between nephrotic syndrome and recurrent hematuria may be based on the inclusion in the recurrent hematuria group of patients with genetically thin GBM; they may also be based on the inclusion in the idiopathic nephrotic syndrome group of patients with subendothelial thickening, a relatively frequent occurrence.(ABSTRACT TRUNCATED AT 250 WORDS)

We examined 20 episodes of nephrotic crisis (Cx) in 13 nephrotic children and report hematological findings and pathogenesis of the crisis. All physical and clinical data including serum and plasma protein levels and urinalysis, were recorded at the onset of Cx, during recovery and the interventing interval. There was a total of 20 incidences of Cx: 17 occurred at relapses and 3 at the onset of the nephrotic syndrome. We compare the Cx data with the data we additionally collected from 14 other children suf f erring with nephrotic syndrome but without the complication of Cx (non-Cx) either at relapses (10) or first onset (4). The most characteristic Cx clinical manifestations (compared with non-Cx group) were abdominal pain in 85 % (cf. 14.3 %), vomiting in 70% (cf. 0 %), and facial pallor in 65% (cf. 7.1 %). There were significant differences of the Cx clinical and hematological data when compared with the non-Cx data. The Cx group showed a significantly lower blood pressure, higher hematocrit value, lower serum sodium concentration, lower C3 level, lower CH50 activity and lower serum total protein and albumin (standardized for hematocrit values). We conclude that hypovolemia was the pathogenesis for Cx: the sudden loss of massive serum protein into urine, causing subsequent hypoproteinemia (hypoalbuminemia) and decreased colloidal osmotic pressure impairing re-entry transport of interstitial fluids from tissue to the blood. The hypovolemia of Cx is aggravated by the hyponatremia which arises due to a sodium shift from the blood to interstitial tissue. We investigated the role and mechanism of a possible hypoadrenocortical state and report negative findings in all cases.