SLC34A3 GENE MUTATION AS A RARE CAUSE OF HYPOPHOSPHATEMIA IN TWO SIBLINGS.

Context: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder, which is characterized by renal phosphate wasting, hypercalciuria, increased 1,25-dihydroxyvitamin D, and decreased parathormone (PTH) levels. Objective: Here we report different clinical features of two siblings with HHRH, confirmed with molecular diagnosis. Subjects and methods: 16.4 years old boy (P1), and 8.7 years old girl (P2) were referred to our outpatient clinic due to clinical suspicion of metabolic bone diseases. Results: P1 had severe hypophosphatemia. Additionally, PTH concentration was near to the lower limit, 1,25-dihydroxyvitamin-D concentration was near to the upper limit. P2 had relatively milder clinical and laboratory findings. Bilateral renal calculi were detected on ultrasound in both of them. HHRH was suspected due to their described biochemistry and the presence of bilateral renal calculi. Molecular analysis of SLC34A3 gene revealed a homozygous variant c.756G>A (p.Gln252=) and a splice donor variant c.1335+2T>A. After oral phosphate treatment, clinical and biochemical improvements were observed. However treatment nonadherence of patients was a barrier to reach treatment goal. Conclusion: The clinical phenotype due to the same mutation in the SLC34A3 gene may vary even among the members of the same family. An accurate diagnosis is important for the appropriate treatment.

A comparison of external fixation and locked intramedullary nailing in the treatment of femoral diaphysis fractures from gunshot injuries.

INTRODUCTION: We studied the safety and incidence of complications from the treatment of gunshot-induced femur diaphysis fractures with locked intramedullary nailing in comparison to external fixation. METHODS: Patients who had femoral diaphysis fracture operations due to gunshot injuries (107 femurs of 99 patients) between 2003 and 2014 were retrospectively reviewed, and 66 femurs of 60 patients were place into two groups (Group A: intramedullary nailing-38 femurs of the 36 patients; Group B: external fixator-28 femurs of 24 patients). The mean follow-up was 76.3 months (22-131). The study outcomes were patient complications, infection rate, union time, need for secondary surgery, functional assessment with lower extremity functional scale, and radiological evaluation with orthoroentgenograms. RESULTS: The mean age of the patients was 37.3 ± 7.4 years in Group A and 39 ± 6.1 years in Group B. There was no significant difference between the two groups in age, gender or follow-up. There were two deep infections (5.2%) in Group A and one deep infection (3.5%) in Group B. Delayed union was observed in four patients (10.5%) in Group A and in two patients (7.1%) in Group B. There was one non-union (2.6%) and one non-union (3.5%) in Group A and Group B, respectively. There was no significant difference between the two groups in incidence of union, delayed union or deep infection. The mean union time was 3.1 ± 2.5 months in Group A and 5.8 ± 1.4 months in Group B. The union time was significantly lower in the intramedullary nailing group (p = 0.023). There were no significant differences between the two groups in regards to radiological and functional evaluation. DISCUSSION: This study showed similar complication rates and functional results both for external fixator and intramedullary nailing for the treatment of femoral diaphysis fractures due to gunshot injuries. LEVEL OF EVIDENCE: Level 3 retrospective comparative clinical study.

Gustilo type IIIC open tibia fractures with vascular repair: minimum 2-year follow-up.

PURPOSE: Salvage or amputation for grade 3C open fracture of tibia is not well responded question universally because of surgical innovations, cultural believes, difficulties in estimate the outcome, coasts, and different results in the literature. The aim of this study was to evaluate the surgical outcomes of Gustilo grade 3C open tibia fractures with at least two years follow-up in non-military adults. METHODS: Twenty-two non-military patients with a mean age of 31.1 were operated with grade 3c open fractures at tibia level in last 10 years in our clinic. We evaluated them retrospectively and asked about their daily life, pain, and if present, about the wish for secondary amputation. We also asked if they would prefer a first day amputation rather than their present status. RESULTS: Mean operation time after the injury was 13 h. Seven patients had nerve injury. Mean operation number was 3.5. Eight patients (%36) (all due to circulatory problem) had to have amputation. All patients treated with temporary unilateral external fixation than converted to circular external fixators when soft tissue healing was completed. Two patients were reoperated because of deformity. Four patients needed revision surgery because of non-union. At long term follow, we had osteomyelitis in one patient. CONCLUSIONS: Scoring systems and the ischemic time are not the only predictors of amputation. The decision of the treatment mode should be made by the patient and the care team after discussing the options and outcomes rather than relying on a scoring system.

Bilateral humeral lengthening in achondroplasia with unilateral external fixators: is it safe and does it improve daily life?

A retrospective study was performed in 18 patients with achondroplasia, who underwent bilateral humeral lengthening between 2001 and 2013, using monorail external fixators. The mean age was ten years (six to 15) and the mean follow-up was 40 months (12 to 104). The mean disabilities of the arm, shoulder and hand (DASH) score fell from 32.3 (20 to 40) pre-operatively to 9.4 (6 to 14) post-operatively (p = 0.037). A mean lengthening of 60% (40% to 95%) was required to reach the goal of independent perineal hygiene. One patient developed early consolidation, and fractures occurred in the regenerate bone of four humeri in three patients. There were three transient radial nerve palsies. Humeral lengthening increases the independence of people with achondroplasia and is not just a cosmetic procedure.

Knee flexion contracture in haemophilia: treatment with circular external fixator.

Haemophilia, a bleeding disorder, causes recurrent intra-articular bleeding of the joints result-ing in chronic haemophilic arthropathy with fixed knee flexion deformity. Mid-long-term results (between 2002 and 2006) of deformity correction in haemophilic patients with Ilizarov type circular external fixators were retrospectively evaluated. There were six patients (five haemophilia A and one haemophilia B). The mean age was 14.7 years (range, 8-22 years) at the time of initial surgery. The mean knee flexion contracture was 45 degrees (range, 30-75 degrees). The mean arc of motion was 58.3 degrees (range, 40-100) before the surgery. The mean duration of follow-up was 8 years (range, 5.5-10 years). The mean duration of external fixation was 4.4 months (range, 2.5-10.5 months). Full extension of the knee joint was obtained in all patients in the early postoperative period. No bleeding, neurological or vascular complications were encountered. The mean amount of recurrence in knee flexion contracture was 10 degrees (range, 0-15 degrees). The amount of the correction was significant (P = 0.0012) and the mean arc of motion was 51.6 degrees (range, 25-90 degrees) that show a decrease of 6.7 degrees (P = 0.04) at the end of follow-up. The circular external fixator is an important, safe and less invasive alternative surgical treatment modality with low recurrence rate. Using the external hinges and distraction during the correction has a protective effect on the joint. It requires a team-work consisting of a haematologist, an orthopaedic surgeon and a physical therapist.

Combined technique for the correction of lower-limb deformities resulting from metabolic bone disease.

We present the results of the surgical correction of lower-limb deformities caused by metabolic bone disease. Our series consisted of 17 patients with a diagnosis of hypophosphataemic rickets and two with renal osteodystrophy; their mean age was 25.6 years (14 to 57). In all, 43 lower-limb segments (27 femora and 16 tibiae) were osteotomised and the deformity corrected using a monolateral external fixator. The segment was then stabilised with locked intramedullary nailing. In addition, six femora in three patients were subsequently lengthened by distraction osteogenesis. The mean follow-up was 60 months (18 to 120). The frontal alignment parameters (the mechanical axis deviation, the lateral distal femoral angle and the medial proximal tibial angle) and the sagittal alignment parameters (the posterior distal femoral angle and the posterior proximal tibial angle) improved post-operatively. The external fixator was removed either at the end of surgery or at the end of the lengthening period, allowing for early mobilisation and weight-bearing. We encountered five problems and four obstacles in the programme of treatment. The use of intramedullary nails prevented recurrence of deformity and refracture.

Fixator-assisted nailing and consecutive lengthening over an intramedullary nail for the correction of tibial deformity.

We report the results of using a combination of fixator-assisted nailing with lengthening over an intramedullary nail in patients with tibial deformity and shortening. Between 1997 and 2007, 13 tibiae in nine patients with a mean age of 25.4 years (17 to 34) were treated with a unilateral external fixator for acute correction of deformity, followed by lengthening over an intramedullary nail with a circular external fixator applied at the same operating session. At the end of the distraction period locking screws were inserted through the intramedullary nail and the external fixator was removed. The mean amount of lengthening was 5.9 cm (2 to 8). The mean time of external fixation was 90 days (38 to 265). The mean external fixation index was 15.8 days/cm (8.9 to 33.1) and the mean bone healing index was 38 days/cm (30 to 60). One patient developed an equinus deformity which responded to stretching and bracing. Another developed a drop foot due to a compartment syndrome, which was treated by fasciotomy. It recovered in three months. Two patients required bone grafting for poor callus formation. We conclude that the combination of fixator-assisted nailing with lengthening over an intramedullary nail can reduce the overall external fixation time and prevent fractures and deformity of the regenerated bone.