RESUMEN
Mucopolysaccharidosis type 10 is caused by biallelic variants in ARSK, which encodes for a lysosomal sulfatase. To date, seven patients with a mild phenotype resembling spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia have been described. In this report, we present two novel ARSK variants and report clinical and radiological findings of three patients. The patients' initial complaints were hip or knee pain and a waddling gait. All patients showed normal intelligence, normal hearing and eye examinations, and none had organomegaly. While typical dysostosis multiplex findings were not observed, mild platyspondyly with anterior beaking of some vertebral bodies, irregular vertebral endplates, wide ribs, inferior tapering of the ilea with a poorly developed acetabulum, irregularity of the central part of the femoral head, delayed ossification of the carpals were noted. Remarkably, all patients showed metaphyseal striation of the long bones, a crucial diagnostic clue to identify ARSK-related MPS type 10. Interestingly, vertebral involvement regressed during follow-up. On the other hand, hip dysplasia progressed in all patients. In conclusion, this study provides valuable long-term results on a recently discovered form of MPS.
RESUMEN
OBJECTIVE: This study aimed to evaluate the necessity of cord arterial blood gas analysis in cases without fetal distress and normal Apgar score. MATERIALS AND METHODS: The cord arterial blood gas analysis and the 1- and 5-minute Apgar scores data of 1438 cases were evaluated. Newborns with fetal distress, neonates requiring cardiopulmonary resuscitation in the delivery room, congenital anomalies, severe and moderate acidemia (pH ≤7.1 at cord arterial blood gas analysis), and pre- and post-term newborns are excluded. Following cord arterial blood gas analysis, threshold values were accepted as abnormal pH <7.2, base excess ≥ -6 mmol/L, lactate ≥ 5 mmol/L, bicarbonate < 18 mmol/L, and partial pressure of carbon dioxide ≥ 50 mmHg. We evaluated the correlation between cord arterial blood gas analysis and 1- and 5-minute Apgar scores. RESULTS: There was a significant correlation between both 1- and 5-minute Apgar scores and cord arterial blood gas analysis values such as pH, lactate, and partial pressure of carbon dioxide (P < .001). In addition, a significant correlation was found between the 5-minute Apgar score of <7 and some cord arterial blood gas analysis abnormal threshold values (pH, bicarbonate, base excess) (P < .001). We found that some patients with mild acidemia had 1- and 5-minute Apgar scores of ≥7 in 1.9% and 2% of cases, respectively. CONCLUSION: The 5-minute Apgar score of 7 or higher may not be sufficient to verify the wellbeing of a newborn. Relying only on the Apgar scores may create the risk of missing some newborns with mild metabolic acidosis. The necessity of routine cord arterial blood gas analysis should be considered in prospective studies even if there are no signs of fetal distress and Apgar score ≥7.
RESUMEN
BACKGROUND: Cystic fibrosis (CF) transmembrane conductance receptor (CFTR)-related disease is diagnosed in patients affected by CFTR dysfunction who do not fully meet the CF diagnostic criteria. Only 2% of all CF patients have CFTR-related disease. We define the demographic characteristics of such patients, described the performance of mutational analyses, and describe the clinical findings. METHODS: Twenty-four patients were followed-up for CFTR-related disease. Patients with CF symptoms but who did not completely fulfil the CF diagnostic criteria were enrolled. Age, body mass index at the times of diagnosis and admission, symptoms, pulmonary function and fecal elastase test results, gene analyses, and clinical findings during follow-up were evaluated. RESULTS: Ten patients (42%) were female and 14 (58%) male. Their mean age was 15.3 years (minimum-maximum 6-20 years). The mean age at diagnosis was 8.5 years (minimum-maximum 3-14 years) and the most common presenting complaint was a cough (n = 19). During follow up, chronic sinusitis developed in 15 patients, bronchiectasis in 13, nasal polyposis in six, failure to thrive in three, recurrent pancreatitis in two, asthma in one, and congenital bilateral absence of the vas deferens in one. Fecal elastase levels were low in only one of the three patients who failed to thrive. In terms of CFTR gene mutations, two were found in 10 patients, one in eight patients, and none in six. CONCLUSIONS: Cystic fibrosis transmembrane conductance receptor-related disease presents with various clinical findings. Serious symptoms may develop later in life. Late diagnosis significantly compromises the quality and duration of life in such patients.
