For decades, ill-defined autosomal dominant renal diseases have been reported, which originate from tubular cells and lead to tubular atrophy and interstitial fibrosis. These diseases are clinically indistinguishable, but caused by mutations in at least four different genes: UMOD, HNF1B, REN, and, as recently described, MUC1. Affected family members show renal fibrosis in the biopsy and gradually declining renal function, with renal failure usually occurring between the third and sixth decade of life. Here we describe 10 families and define eligibility criteria to consider this type of inherited disease, as well as propose a practicable approach for diagnosis. In contrast to what the frequently used term 'Medullary Cystic Kidney Disease' implies, development of (medullary) cysts is neither an early nor a typical feature, as determined by MRI. In addition to Sanger and gene panel sequencing of the four genes, we established SNaPshot minisequencing for the predescribed cytosine duplication within a distinct repeat region of MUC1 causing a frameshift. A mutation was found in 7 of 9 families (3 in UMOD and 4 in MUC1), with one indeterminate (UMOD p.T62P). On the basis of clinical and pathological characteristics we propose the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' as an improved terminology. This should enhance recognition and correct diagnosis of affected individuals, facilitate genetic counseling, and stimulate research into the underlying pathophysiology.

No abstract

RezumatDate generale: Leziunile cu volet costal (FCI) sunt asociate cu o rată ridicată de morbiditate şi mortalitate. Având în vedere că asocierea unei fracturi de claviculă concomitente cu FCI agravează chiar rezultatul, întrebarea care se pune este cum pot fi aceste leziuni costoclaviculare (CCI) gestionate chirurgical. Metode: 11 pacienţi cu CCI au fost trataţi chirurgical prin osteosinteză a claviculei şi a coastelor subiacente prin placă blocată, prin abordări chirurgicale limitate, sub anestezie generală. Pacienţii au fost urmăriţi la 2, 6, 12, 26 şi 52 de săptămâni. Rezultate: Toţi pacienţii au prezentat o deformare severă a peretelui toracic din cauza fracturilor puternic deplasate ale coastelor şi claviculei. Ei sufereau de durere şi de restrângerea mişcărilor respiratorii. Peretele toracic a putut fi restabilit la forma normală în toate cazurile, cu vindecare lipsită de complicaţii a oaselor şi confort sporit al pacientului. Fracturile claviculei şi celei de-a doua coaste au fost gestionate printr-o abordare inovatoare clavipectorală, iar celelalte prin abordări standard ale peretelui anterolateral şi posterolateral. Doi pacienţi s-au plâns de amorţeală în zona intervenţiei laterale şi de durere periscapulară peristentă. Concluzii: Stabilizarea chirurgicală ar putea reprezenta terapia adecvată în CCI cu fracturi dislocate, deoarece acestea ar putea cauza deformări severe şi pierderea funcţiei peretelui toracic şi a umărului.

Different ways to stabilize a sternal fracture are described in literature. Respecting different mechanisms of trauma such as the direct impact to the anterior chest wall or the flexion-compression injury of the trunk, there is a need to retain each sternal fragment in the correct position while neutralizing shearing forces to the sternum. Anterior sternal plating provides the best stability and is therefore increasingly used in most cases. However, many surgeons are reluctant to perform sternal osteosynthesis due to possible complications such as difficulties in preoperative planning, severe injuries to mediastinal organs, or failure of the performed method.This manuscript describes one possible safe way to stabilize different types of sternal fractures in a step by step guidance for anterior sternal plating using low profile locking titanium plates. Before surgical treatment, a detailed survey of the patient and a three dimensional reconstructed computed tomography is taken out to get detailed information of the fracture's morphology. The surgical approach is usually a midline incision. Its position can be described by measuring the distance from upper sternal edge to the fracture and its length can be approximated by the summation of 60 mm for the basis incision, the thickness of presternal soft tissue and the greatest distance between the fragments in case of multiple fractures.Performing subperiosteal dissection along the sternum while reducing the fracture, using depth limited drilling, and fixing the plates prevents injuries to mediastinal organs and vessels.Transverse fractures and oblique fractures at the corpus sterni are plated longitudinally, whereas oblique fractures of manubrium, sternocostal separation and any longitudinally fracture needs to be stabilized by a transverse plate from rib to sternum to rib. Usually the high convenience of a patient is seen during follow up as well as a precise reconstruction of the sternal morphology.

A total of 21,741 patients met the inclusion criteria including 10,474 (48.2 %) suffering from either RF or FC. The mean age was 49.8 ± 19.9 years in the RF group and 54.1 ± 18.2 years in the FC group. Approximately 25 % were female in both groups, 98.1 % were blunt force injuries and the median ISS was 28.0 ± 11.2 in RF and 35.1 ± 14.2 in FC. Shock, insertion of a chest tube, (multi) organ failure and fatality rates were significantly higher in the FC group as were concomitant thoracic injuries, such as pneumothorax and hemothorax. Sternal fractures without rib fractures were less common (3.8 %) than concomitant in the RF (10.1 %) and FC (14 %) groups, as were concomitant fractures of the clavicle and the scapula. Out of all patients 32.6 % showed fractures of the thoracolumbar spine, 26.5 % without rib fractures, 36.6-38.6 % with rib fractures or monolateral FC and 48.6 % concomitant to bilateral FC. Thoracotomy was carried out only in isolated cases in RF and in 10.2 % of the FC group. Operative stabilization of the thoracic cage was carried out in 3.9-9.1 % of patients in the RF group and in 17.9-23.9 % in the FC group.

A total of 16.5 % of sternal fractures were localized at the manubrium, mostly caused by seat belt. Fractures without significant dislocation seemed to be stable and healed well under conservative treatment. Dislocation in this region leads to unstable shoulder girdle. Anterior plating provides sufficient stabilisation and allowed consolidation.

RezumatDate generale: Leziunile de volet costal (FCI) sunt unele dintre cele mai grave leziuni toracice. Mai mult decât atât, o fractură de stern suplimentară (SF) chiar agravează rezultatele, cum ar fi durata ventilaţiei mecanice, prin urmare o fixare chirurgicală a fracturilor poate fi luată în considerare în anumite cazuri pentru a grăbi deconectarea ventilatorului. Această lucrare urmăreşte să sublinieze managementul diferitelor tipuri de SF în FCI. Metode: Toate cazurile tratate chirurgical (2012)(2013)(2014)(2015)(2016) Original ArticleCuvinte cheie: volet costal, fractură de stern, fractură sternală, fractură costală, osteosinteză cu placă blocată, Matrix Rib Abstract Background: Flail Chest Injuries (FCI) are one of the most severe thoracic injuries. Moreover, an additional sternal fracture (SF) even worsens the outcome, such as the duration of mechanical ventilation, therefore an surgical fixation of the fractures could be considered in certain cases to improve the weaning from the ventilator. This paper aims to emphasize on the management of different types of SF in FCI. Methods: All surgically treated cases (2012)(2013)(2014)(2015)(2016) that showed the combination of FCI and SF have been evaluated for their clinical details, the morphology of the fractures and the technical aspects of the surgical procedure in a retrospective investigation.Results: All of the SF (n=15) had been fixed by locked plate osteosynthesis through a median approach in a supine position. Three main regions of the sternum showed the need for different fixation strategies: the upper manubrium, central and lower corpus sterni. Concomitant rib fractures were addressed either through the same approach or through additional limited incisions. Conclusions: Combinations of SF and FCI are high risc injuries with high demand on surgical skills. They can be properly fixed with a locking plate osteosynthesis through a combination of limited incisions employing different types of plates depending on the type of SF.

Purpose Operative treatment of sternal fractures has become a matter of increasing interest. Anterior plating seems to be the most appropriate method for fixing sternal fractures. However, there are several concerns in relation to the operative procedure such as severe injuries to mediastinal organs, patient comfort and proper stabilisation, for example. This paper describes a safe method of anterior sternal plating using locked plate fixation with limited depth drilling. Methods Ten patients with sternal fractures were included in this cohort study and were treated by anterior plating using one or two plates in parallel through a median approach to the sternum. Follow up was performed after six weeks, 12 weeks and six months. Results Follow up revealed no serious complications. One patient suffered from postoperative wound seroma. No problems were caused by the plates. Conclusions Sternal plating using low profile locked titanium plates seems to be a safe and stable method with a high level of patient comfort.