Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 23-year-old woman, who had nonbullous congenital ichthyosiform erythroderma since her childhood, was diagnosed as nephrotic syndrome caused by systemic lupus erythematosus (SLE). She was pregnant but experienced fetal loss at the age of 25. Although 10 mg/day of oral prednisolone was administered, low levels of serum complement, proteinuria, thrombocytopenia (6.0 x 10(4)/mm3) and biological false positive for STS continued. When she was 27 years old, right hemichorea developed. She was admitted to our hospital at the age of 28 because of low levels of serum complement, high titers of anti ds-DNA antibody, profuse proteinuria, gingival bleeding and thrombocytopenia (1.5 x 10(4)/mm3). The nephrotic syndrome gradually improved after 1 g/day of methylprednisolone for 2 days and the oral prednisolone dosage was then increased up to 40 mg/day, and was tapered to 10 mg/day. Epileptic attack (minor seizure) occurred at the age of 29. Continuous low levels of serum complement and high titers of anti ds-DNA antibody were improved by adding 50 mg/day of cyclophosphamide. However, high levels of beta 2 GPI dependent anticardiolipin antibody and lupus anticoagulant activity were observed throughout the study. Our patient was a very rare case of congenital ichthyosis with typical antiphospholipid antibody syndrome and SLE. A few cases of acquired ichthyosis associated with SLE has been reported, and ichthyosis developed only in active stage of SLE. However, our patient's ichthyosiform lesions were not changed throughout the course.
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PMID:[Systemic lupus erythematosus and antiphospholipid antibody syndrome in a patient with congenital ichthyosiform erythroderma]. 748 67

We describe an 8-year-old boy who presented with steroid-resistant nephrotic syndrome (SRNS) associated with X-linked ichthyosis (XLI). At birth, the patient exhibited scaly skin, cryptorchidism, and steroid sulfatase (STS) deficiency. DNA analysis showed deletion of exons 1-10 of the STS gene. Proteinuria developed at 6 years and was resistant to steroid therapy. Kidney biopsy findings prior to steroid therapy were compatible with minimal change nephrotic syndrome. By immunofluorescence, glomerular basement membranes exhibited diffuse linear staining for the alpha5 chain of collagen IV, making X-linked Alport syndrome an unlikely explanation for the association of SRNS and ichthyosis. Despite immunosuppressive therapy together with oral prednisolone, no clinical response was achieved. He rapidly reached end-stage renal failure and finally underwent renal transplantation. We propose that SRNS should be considered as one of the highly variable phenotypes associated with XLI.
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PMID:End-stage renal failure in a child with X-linked ichthyosis. 1264 29

We describe a 10-year-old boy with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis who presented with nephrotic syndrome. DNA analysis revealed deletion of the Steroid Sulfatase (STS) gene. STS deficiency in X-linked ichthyosis leads to cholesterol sulfate accumulation, which induces transglutaminase-1 dysfunction. Since the slit diaphragm of the glomerular epithelial cell is a modified adherens junction, the accumulation of cholesterol sulfate could interfere with the normal slit diaphragm function of the glomerular visceral epithelial cell, resulting in nephrotic range proteinuria. The child went into remission on oral prednisolone.
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PMID:Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis. 1746 28