ABSTRACT
The first symptoms of immunooseous dysplasia were growth retardation and myopia. Nephrotic syndrome was diagnosed at the age of 8 years. Skeletal roentgenograms showed spondyloepiphyseal dysplasia. In the renal biopsy there was nodular accumulations of PAS-positive hyaline material at the base of the granular stalks. There was lymphopenia with decreased CD4 and CD8 subpopulations. The condition of the patient gradually worsened until she died unexpectedly at 10 years with clinical symptoms of encephalitis. Autopsy documented cytomegaloviral pneumonia and advanced mesangioproliferative glomerulonephritis. In the spleen there was PAS-positive hyaline material massively infiltrating the walls of the central arterioles of the splenic follicles. There was marked depletion of lymphocytes in the spleen and in lymph nodes. The differential diagnosis of immunooseous dysplasia in the framework of spondyloepiphyseal dysplasia is discussed.
Subject(s)
Nephrotic Syndrome/genetics , Osteochondrodysplasias/genetics , Child , Diagnosis, Differential , Female , Growth Disorders/complications , Growth Disorders/genetics , Humans , Immunologic Deficiency Syndromes/complications , Immunologic Deficiency Syndromes/genetics , Myopia/complications , Myopia/genetics , Nephrotic Syndrome/complications , Osteochondrodysplasias/complications , Osteochondrodysplasias/diagnosisABSTRACT
In order to assess the familial incidence of vesicoureteral reflux (VUR) the authors examined a group of 54 families of children treated on account of this disease. Genealogical analysis revealed the same defect in two parents (1.8%), i.e. mothers and in five siblings (7.6%). Other urological abnormalities were found in 11 (6.3%) grade I relatives of children with VUR. Screening of the kidneys was made in 156 (91%) of grade I relatives. VUR was thus revealed in three siblings, incl. one where it was detected prenatally. In 18 families further abnormalities of the kidneys and urinary pathways were detected. Most frequently it was duplication of the urinary pathways which was detected in 12 grade I relatives (7%). The authors diagnosed furthermore: in mothers once right-sided hydronephrosis, once a dystopic kidney with pyelonephritic changes, once sponge kidneys, twice kidneys altered by pyelonephritis. The finding of hitherto clinically not manifested abnormalities which were thus revealed in 21 (12.1%) grade I relatives leads to the recommendation of ultrasound screening of the kidneys in families with VUR. The presence of VUR in eight (12.3%) siblings indicates the important role of genetic factors in the development of this defect.
