Nephronophthisis due to mutation in the TMEM67 gene

Abstract

The urgency of the problem is due to the prevalence and clinical heterogeneity of hereditary cystic kidney diseases. The phenotypic diversity of nephronophthisis and nephronophthisis-related syndromes, which in most cases are characterized by an autosomal recessive type of inheritance, suggests the necessity of genotype diagnosis to personalize the choice of therapeutic means, taking into account the individual (genetic) characteristics of the disease in a particular patient. The article provides a review of the literature on the characteristics of the clinical phenotype and genotype of nephronophthisis and nephronophthisis-related syndromes that developed as a result of mutations in the TMEM67 gene (Meckel—Gruber 3 syndrome, Bardet—Biedl 14 syndrome, Joubert 6 syndrome, COACH 1 syndrome, RHYNS syndrome). On the example of a proband with prenatally identified renal cysts and nephrogenic arterial hypertension (AH) from birth, the features of the course and diagnosis of nephronophthisis-11 due to mutations in the TMEM67 gene were demonstrated. Difficulties in differential diagnosis in patients with a negative family history confirm the importance of molecular genetic testing.