Patients With Biallelic Mutations in the Chloride Channel Gene CLCNKB: Long-Term Management and Outcome

These data show that some patients with biallelic mutations in the chloride channel gene CLCNKB tend to present with pathological proteinuria and impaired kidney function after a median follow-up of 14 years, and growth retardation is common and sometimes related to growth hormone deficiency in these patients.