Nocturnal enuresis and poor sleep quality.

BACKGROUND: Sleep disorders are strongly associated with childhood nocturnal enuresis (NE). In this study, we examined whether sleep disorders are present in children with NE, and whether NE is caused by sleeping disorders, or is simply comorbid. METHODS: We examined 14 children with monosymptomatic NE and 15 age-matched controls. Sleep disorders were assessed for ≥5 days using contactless biomotion sensors to detect breathing and body movements during at-home sleep. To assess sleep quality, we compared median sleep efficiency and the number of shallow sleep episodes between the groups. We also investigated the change in sleep quality after successful NE treatment in five children. RESULTS: Median sleep efficiency was significantly lower in the NE group (87.3%) than in the control group (93.4%; P < 0.001). The number of shallow sleep episodes per night was significantly higher in the NE group (5.11) than in the control group (1.50; P < 0.001). Neither sleep efficiency nor the number of shallow sleep episodes improved in the five children whose NE was successfully stopped after bedwetting-alarm therapy (P = 0.50 and 0.22, respectively). CONCLUSIONS: Sleep disorders are present in children with NE. Although there are insufficient data to conclude that sleep disorders are not the cause of NE, we suggest that they are comorbid because sleep disorders persisted even after NE was halted.

A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3.

BACKGROUND: Pseudohypoaldosteronism type II (PHA II), also referred to as Gordon syndrome, is a rare renal tubular disease that is inherited in an autosomal manner. Though mutations in WNK1 and WNK4 partially account for this disorder, in 2012, 2 research groups showed that KLHL3 and CUL3 were the causative genes for PHA II. Here, we firstly report on the Japanese child of PHA II caused by a mutation of CUL 3. CASE PRESENTATION: The patient was a 3-year-old Japanese girl having healthy unrelated parents. She was initially observed to have hyperkalemia, hyperchloremia, metabolic acidosis, and hypertension. A close investigation led to the diagnosis of PHA II, upon which abnormal findings of laboratory examinations and hypertension were immediately normalized by administering thiazides. Genetic analysis of WNK1 and WNK4 revealed no mutations. However, analysis of the CUL3 gene of the patient showed abnormal splicing caused by the modification of exon 9. The patient is currently 17 years old and does not exhibit hypertension or any abnormal findings on laboratory examination. CONCLUSIONS: In this patient, CUL3 was found to play a fundamental role in the regulation of blood pressure, potassium levels, and acid-base balance.