. Author manuscript; available in PMC: 2018 Jul 16.

Published in final edited form as: Ann Intern Med. 2017 Dec 5;168(2):100–109. doi: 10.7326/M17-1319

Table 3.

Characteristics of Patients with PARN (NM_002582) Mutations

Characteristic	K017	K018	K060
Clinical diagnosis	CKD of unknown cause, Tubulointerstitial nephropathy with dysplastic features on biopsy	CKD of unknown cause, Tubulointerstitial nephropathy with dysplastic features on biopsy	CKD of unknown cause, no kidney biopsy available
Sex	Male (father)	Female (daughter)	Female
Age at presentation	44 y	23 y	48 y
Kidney outcome	ESRD, has undergone kidney transplantation	ESRD, has undergone kidney transplantation	ESRD, has undergone kidney transplantation
Follow-up clinical findings	Work-up for interstitial lung disease 3 y after study enrollment	None	Secondary hyperparathyroidism, normal findings on chest radiography at age 50 y, macrocytic anemia
Sequence variant^†	c.554+1G>A	c.554+1G>A	c.C643T: p.Q215*

CKD = chronic kidney disease; ESRD = end-stage renal disease.

^†

Absent in the Short Genetic Variations (Single Nucleotide Polymorphism) and Exome Aggregation Consortium databases.