Background/Aim: Although clinical and immunological findings in steroid-sensitive nephrotic syndrome (SSNS) favor an immunopathogenesis, many issues remain unsolved. Comprehensive studies analyzing cellular and humoral immunity in SSNS are scarce, and few studies addressed the effect of steroids on immunological factors. Methods: We therefore performed a cross-sectional study of T and B lymphocyte populations in 89 children during the different stages of the disease and related the findings to parameters of humoral immunity and treatment with steroids. Results: In untreated relapse, an increase in the proportion of activated CD3+ lymphocytes with a concomitant reduction of CD19+ B cells was noted compared to healthy controls. Conversely, patients with steroid dependency, relapsing on alternate-day steroids, showed a decline of the absolute numbers as well as proportion of CD4+ lymphocytes but a relative increase in CD19+ B cells, compared to healthy controls. Also untreated remission was characterized by an absolute and relative decrease in CD4+ lymphocytes compared to healthy controls which was accompanied by a significant increase in the proportion of CD8+ and also activated CD3+ lymphocytes. Steroid-induced remission resulted in suppression of absolute and relative CD4+, while absolute and relative B cells were upregulated in this group compared to untreated remission. Summary and Conclusion: Alterations of lymphocyte populations in SSNS are not limited to relapse but seem to be more pronounced in remission and show a different profile with steroid treatment. Changes of lymphocyte populations do not only affect T but also B lymphocytes, which may be of relevance in the pathogenesis of this disorder.

Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder characterized by early onset nephrotic syndrome and microcephaly with various anomalies of the central nervous system. GMS likely represents a heterogeneous group of disorders with hitherto unknown genetic etiology. The clinical phenotype to some extent overlaps that of Pierson syndrome (PS), which comprises congenital nephrotic syndrome and distinct ocular abnormalities but which may also include neurodevelopmental deficits and microcephaly. PS is caused by mutations of LAMB2, the gene encoding laminin beta2. We hypothesized that GMS might be allelic to PS or be caused by defects in proteins that interact with laminin beta2. In a cohort of 18 patients with GMS or a GMS-like phenotype we therefore analyzed the genes encoding laminin beta2 (LAMB2), laminin alpha5 (LAMA5), alpha3-integrin (ITGA3), beta1-integrin (ITGB1) and alpha-actinin-4 (ACTN4), but we failed to find causative mutations in these genes. We inferred that LAMA5, ITGA3, ITGB1, and ACTN4 are not directly involved in the pathogenesis of GMS. We excluded LAMB2 as a candidate gene for GMS. Further studies are required, including linkage analysis in families with GMS to identify genes underlying this disease.

In patients there is a slight, but significant, reversible increase of OI after successful weaning from NO. In vitro, NO leads to a reversible decrease of ENOS activity on a post mRNA level, resembling clinical observations.

ABSTRACT. Secondary hyperlipidemia is a common laboratory finding in children with nephrotic syndrome, diabetes mellitus, and hypothyroidism. However, clinical signs of hyperlipidemia are extremely rare in childhood.We report on an 11-year-old girl who presented with a disseminated yellow papulomatous rash on the lower limbs and yellow skin creases on the palms of her hands. Blood tests yielded an opaque serum with a triglyceride concentration of 820 mg/dL and cholesterol of 1050 mg/ dL. Skin biopsy of one of the papules confirmed the diagnosis of xanthomas.Additional examinations revealed clinical (weight gain, diminished growth rate) and biochemical primary hypothyroidism (free T4: 0.4 ng/L [normal 8 -22 ng/L]; thyroid-stimulating hormone: >200 mU/L) as a consequence of Hashimoto thyroiditis (thyroid peroxidase and thyroglobulin: 4400 U/mL and >2000 U/mL, respectively; normal <60 U/mL). The patient was started on L-thyroxine, which led to a gradual decline of cholesterol and triglycerides to normal concentrations and a complete remission from the xanthomatous rash.For the first time, this case depicts disseminated xanthomas of the skin as the presenting complaint of severe hypothyroidism. Pediatrics 2001;108(5). URL: http:// www.pediatrics.org/cgi/content/full/108/5/e96; hyperlipidemia, hypothyroidism, xanthoma.ABBREVIATIONS. fT4, free T4; SDS, standard deviation score; TSH, thyroid-stimulating hormone.W ith an incidence of 1 in 500, hyperlipidemia is one of the commonest congenital disorders of metabolism. 1 Heterozygous type III hyperlipoproteinemia is clinically relevant, as it is frequently associated with the presence of xanthomas in adulthood. 2 However, although nonspecific skin lesions may occur in childhood type III hyperbetalipoproteinemia, xanthomas are extremely uncommon.Apart from inborn hyperlipidemia, secondary causes of elevated serum lipids have to be excluded. These diseases include the nephrotic syndrome, 3 diabetes mellitus, and hypothyroidism. 1 Particularly in childhood, however, secondary hyperlipidemia is rarely associated with clinical signs or symptoms. 4 We present a child with disseminated xanthomas and massively elevated serum lipid concentrations as a consequence of severe hypothyroidism. CASE REPORTAn 11-year-old girl presented to the pediatric endocrine outpatient department of the University of Erlangen with a disseminated yellow papulomatous rash on her lower limbs and yellow skin creases of the palms of her hands (Fig 1). The rash had been developing gradually over the past 2 years. On presentation, the patient was 137.5 cm tall (standard deviation score [SDS]: Ϫ2.4; Fig 2) and had a weight of 37 kg (50th percentile). Body mass index was 19.6 (SDS ϩ 1.8 according to 5). When the patient was 4 years old, her height had been at the 50th percentile (102 cm;

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