Discussion:
Three type of NPHP were described : juvenile or type 1 NPHP which the
symptoms start between 4 and 6 years and lead the patient to ESRD at 13
years or later, infantile NPHP or type 2 which lead the patient to ESRD
before 2 years; and adolescent NPHP or type 3 where ESRD occurred at
mean age of 19 years (13). Extrarenal syndromes are associated with NPHP
in 10 to 20 %, including: cerebellar ataxia (Joubert syndrome),
retinitis pigmentosa (Senior-Løken syndrome), mental retardation,
cardiac malformation, situs invertus and many others (1). NPHP with
situs invertus or congenital heart abnormalities occur mostly in
infantile patients. The most common congenital heart defect in this
setting is ventricular septal defect (12).
Patients with genetic disorders are potentially more susceptible to
present organs or vascular abnormalities compared to general population
(11). LSVC occurs in 0.3% to 0.5% of the general population and in 3%
to 5% of the patients with congenital heart disease, (6-7). The
development of the left anterior cardinal vein occurs a complete
regression of the right SVC (7-11). Most commonly the LSVC allows blood
to reach the right atrium through the coronary sinus. LSVC is usually
asymptomatic and does not require treatment unless accompanied by other
cardiac anomalies (6-7-8).
If central veins abnormalities do not rule out, central vein procedures
could lead to serious complications (2). Ultrasonography and fluoroscopy
have shown fewer complications and fewer catheters tip malposition
compared to procedures done by blinded fashion (3-4-5). Peter .G and col
described surgically placed left-sided subclavian CVC in a patient with
a left-sided superior vena cava which caused a hemothorax; subsequently,
an interventional radiologist placed a CVC in the left internal jugular
vein under fluoroscopy (2).
Our patient presented two major difficulties: central vein abnormality
which is: LSVC and, a thrombosed left jugular vein with thrombosed left
brachiocephalic vein secondary to repeated short term catheter
placement.
For these patients, ultrasound guidance for vein puncture and
fluoroscopic guidance for the accurate position of the catheter should
be mandatory to avoid major complications or CVC misplacement.
(9-10-11).