Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.

Autosomal dominant distal renal tubular acidosis (dRTA) is a rare disorder caused by a mutation in the AE1 gene encoding the chloride-bicarbonate (Cl/HCO) anion exchanger 1 (AE1). Most patients with this disorder present with clinical symptoms in adulthood and their phenotype is milder than that of those with autosomal recessive dRTA. In this report, we describe a Japanese family with autosomal dominant dRTA in which the mother and her daughter presented with severe symptoms caused by hypokalemia at 2 years of age.

Clinicopathologic correlation of C1q nephropathy in children.

Background: Clinicopathologic correlation of C1q nephropathy is clarified poorly. The aim of our study is to clarify clinicopathologic correlation in childhood C1q nephropathy.

Methods: Thirty children aged 3 to 15 years who met criteria proposed by Jennette and Hipp were enrolled in this study.

Bronchiolitis obliterans organizing pneumonia as an initial manifestation in systemic lupus erythematosus.

Bronchiolitis obliterans organizing pneumonia (BOOP) is a rare complication of adult systemic lupus erythematosus (SLE). This is the first report of a pediatric patient with BOOP as an initial presentation of SLE. She had dyspnea, cough, arthralgia, and erythema on her face.

Clinicopathological correlation of childhood IgA glomerulonephritis presenting diffuse endocapillary proliferation.

The aim of the present study is to clarify the clinicopathological correlation of childhood IgA glomerulonephritis (GN) presenting diffuse endocapillary proliferation. Twenty-seven patients were used in the present study. The 27 patients were divided into three groups (mild, moderate and severe) according to the percentage of glomeruli displaying global endocapillary proliferation per total glomeruli at the first biopsy.

Fibronectin glomerulopathy with nephrotic syndrome in a 3-year-old male.

Familial non-immune-mediated glomerulopathy has recently been recognized as a distinct clinical entity. The presentation includes proteinuria, often in the nephrotic range, microscopic hematuria, and hypertension. Renal function may remain intact long term, or may progress slowly to renal failure.

[Five cases of acute poststreptococcal glomerulonephritis with acute renal failure and nephrotic syndrome].

During the period of 27 years from 1974 to 2000, acute episodes were studied retrospectively in 130 patients under 14 years of age with poststreptococcal acute glomerulonephritis(PSAGN). PSAGN cases have a variable clinical presentation from asymptomatic to severe oliguric acute renal failure(ARF). Proteinuria is nearly always present, but is less than 3.