Henoch-Schönlein Nephritis Manifesting with Purpura 15 years after Diagnosis of IgA Nephropathy.

Henoch-Schönlein nephritis or immunoglobulin A (IgA) vasculitis is characterized by purpura, arthralgia, abdominal pain, and glomerulonephritis with glomerular IgA deposition. Notably, the presence of purpura is essential to diagnose this disease. We report the case of a patient in whom proteinuria and haematuria were detected during screening tests and he was diagnosed with IgA nephropathy at 20 years of age. Corticosteroids were administered for 7 years and were subsequently tapered. At 35 years of age, he noticed purpura on his lower extremities and was diagnosed with anaphylactoid purpura. Following the appearance of purpura, urinalysis revealed an increase in urinary protein levels from 0.7 g/g creatinine (Cr) to 1.4 g/gCr, and his serum Cr levels increased from 1.1 mg/dL to 1.35 mg/dL. Two months later purpura subsided, and his urinary protein level and serum Cr level were restored to the former levels. Although the cause remains unknown, an interval may occasionally be observed between the appearance of purpura and urinary abnormalities. However, to our knowledge to date, a 15-year interval is the longest interval, in such cases, reported in the literature.

Incontinentia pigmenti in a male (XY) infant with long-term follow up over 8 years.

Incontinentia pigmenti (IP) is an X-linked genodermatosis affecting the skin and other sites, including the teeth, nails, hair, eyes and nervous system defects in female patients. Generally lethal in males, there are only a few known cases of males surviving this condition. Nuclear factor (NF)-κB essential modulator (NEMO), also known as inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG), constitutes an essential activator of NF-κB. Over 80% of female patients with IP carry a common deletion mutation involving exons 4-10 of the IKBKG/NEMO gene. We present the case of a male infant (XY) with IP with no concomitant complications. Polymerase chain reaction (PCR) assay showed that the exon 4-10 deletion band was significantly stronger in the skin sample than in blood. Subsequently, long-range PCR was performed periodically to confirm the spontaneous regression of mutant cells from his blood. Over a period of 6 years, the 2.6-kb mutant band gradually became weaker, but we did not confirm complete regression. Our patient was a healthy, 8-year-old male child with no complications despite the presence of a 2.6-kb mutant band in his blood. Further follow up is necessary to assess for complications that may develop later.

Novel SLC39A4 mutations in acrodermatitis enteropathica.

Acrodermatitis enteropathica is an autosomal recessive disease characterized by skin involvement due to defective intestinal zinc absorption. Usually, the skin lesions include erythema, erosions, and small blisters in perioral, perianal regions, and hands and feet, which develop soon after weaning from the breast. The acrodermatitis enteropathica gene has been localized to chromosomal region 8q24.3 and subsequently the SLC39A4 gene has been disclosed as the acrodermatitis enteropathica gene. SLC39A4 mutations have been demonstrated in several acrodermatitis enteropathica families, and in this study we have examined two Japanese acrodermatitis enteropathica families for SLC39A4 mutations. The mutation detection strategy consisted of polymerase chain reaction amplification of all 12 exons and flanking intronic sequences, followed by direct nucleotide sequencing. It revealed three novel mutations, 1017ins53, which creates a premature termination codon, and two mis-sense mutations, R95C and Q303H.

A dynamic method of measuring surface potential change due to binding of bitter substance at monolayer-coated liquid membrane surface.

A dynamic method of determining the membrane surface potential change due to a binding of a hydrophobic ion has been presented. The surface potential was determined from the time course of membrane potential under zero electric current during a transition between two steady states in a membrane filter impregnated with a phospholipid and 1-octanol. One of the alkaloids, quinine hydrochloride, was used as a hydrophobic electrolyte. Surface charge density and equilibrium constant for binding of quinine ions with ionizable groups of the phospholipids at the membrane surface were determined from the surface potential according to the Poisson-Boltzmann equation.