New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene

BMC Medical Genomics

Table 1 Clinical and biological findings of patients with KIN in families A and Z

	Patient No	Sexe	AN	AERSD	Smoking	Personal history	Cause of renal examination	TR	Death	Initial creatinine (µmol/l)	eGFR ml/min/1.73m²	Cytolisis	Cholestasis	VST	KB	Liver Biopsy
Family A	IV-2	M	36	36	No	0	Convulsion	Yes	No	900	9.9	Yes	Yes	–	No	No
	IV-7	M	39	43	Yes	Appendectomy	Donor check up	Yes	Yes	161	69.4	No	Yes	–	Yes K +	Yes K-
	IV-11	M	26	29	No	0	Donor Check up	No	Yes	197	53.38	Yes	Yes	–	No	No
	IV-12	M	32	38	No	Urethritis	Donor Check up	No	No	141	65.9	Yes	Yes	–	Yes K +	No
Family Z	II-2	M	31	36	No	0	Fortuitously	Yes	Yes	1000	ND	No	No	–	No	No
	II-3	M	25	33	No	Epilepsy and visceral leishmaniasis	Donor check up	No	No	200	ND	No	No	–	Yes K +	Yes K-

AN, age at the time of the discovery of nephropathy; AERSD, Age at the time of the end of renal stage disease; HMG, hepatomegaly; TR, transplantation; eGFR, estimated glomerular filtration rate; VST, viral serology test; KB, Kidney biopsy; K, Karyomegaly; + , present; -, absent; ND, no data

ISSN: 1755-8794