Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants

• Published in: American journal of kidney diseases Vol. 76; no. 2; pp. 282 - 287
• Main Authors: Hudson, Rebecca, Patel, Chirag, Hawley, Carmel M., O’Shea, Stacey, Snelling, Paul, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna, Francis, Leo, Simons, Cas, Mallett, Andrew
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.08.2020
• Subjects: adult onset; atypical clinical presentation; autosomal recessive; case report; chronic kidney disease (CKD); diagnosis; genetic heterogeneity; genetic testing; kidney biopsy; mutation; nephrocystin 4 (NPHP4); Nephronophthisis (NPHP); nonsyndromic NPHP; pedigree; phenotypic variability; renal failure; whole-genome sequencing; kidney biopsy; phenotypic variability; adult onset; whole-genome sequencing; diagnosis; case report; nephrocystin 4 (NPHP4); chronic kidney disease (CKD); nonsyndromic NPHP; Nephronophthisis (NPHP); genetic heterogeneity; pedigree; mutation; atypical clinical presentation; genetic testing; renal failure; autosomal recessive

There is increasing appreciation of nephronophthisis (NPHP) as an autosomal recessive cause of kidney failure and earlier stages of chronic kidney disease among adults. We identified 2 families with presumed adult-diagnosed nonsyndromic NPHP and negative diagnostic genetic testing results from our R...