We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, cerebral calcification, mental retardation, band keratopathy, cataracts, glaucoma and short stature. Severe metabolic acidosis and hypokalaemia were linked to an abnormally low renal threshold for bicarbonate reabsorption (8 mmol/l). Maximal rates of urinary excretion of titratable acid and ammonium were normal; erythrocyte carbonic anhydrase II was normal. This rare case represents a systemic disease with a distinct clinical entity which may be transmitted by autosomal recessive inheritance.

A new hyperunstable hemoglobin was found in a Japanese girl who had very severe, chronic hemolytic anemia. Her parents and siblings were hematologically normal. The abnormal hemoglobin comprised a very small proportion of the total hemoglobin, although it was produced almost at the same rate as normal hemoglobin. Sequencing of an abnormal peptide which was liberated from the beta chain by hydrolysis with a protease from Staphylococcus aureus V8 disclosed the tandem insertion of a five-residue segment which included the proximal histidine at beta 92(F8).

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: According to questionnaire surveys in 2011 and 2013 about the health effects of radiation after the Fukushima Daiichi Nuclear Power Plant Accident, the guardians of child patients were more anxious than doctors and medical students. Also, according to the thyroid examinations in a Fukushima health survey, 190 cases of thyroid cancer were reported, and anxiety about radiation effects remained. This study is based on a survey about the guardians of child patients anxiety about radiation effects six years after the nuclear power plant accident, and includes a questionnaire survey about radiation effects and thyroid examinations in a Fukushima health survey. Anonymous question sheets with 20 questions were sent to pediatric medical facilities in Fukushima, and the parents of children who consulted the pediatric and medical staff answered the questionnaire. Thirty percent of the guardians of child patients had never been educated about radiation and 67% had never been educated about the effects of radiation on humans. The guardians of child patients were more anxious than the medical staff about thyroid cancer, health effects on children and genetic effects. Our results indicate that the guardians of child patients think that the increase in the incidence of thyroid cancer is due to radiation effects after the nuclear power plant accident and they desire continued thyroid examinations.