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1.
Ahmet Nayir Alev Kadioĝlu Aydan Şirin Sevinç Emre Erdem Tonguç Ilmay Bilge 《Pediatric nephrology (Berlin, Germany)》1995,9(6):729-733
The primary disorders of 50 children with increased renal medullary echogenicity on renal ultrasound were studied; 28 girls and 22 boys aged from 1 month to 16 years were classified into four groups based on underlying disease and ultrasound findings. Group 1 was composed of 17 patients with distal renal tubular acidosis (34%); intense echoes throughout the pyramid were predominant. Group 2 consisted of 14 patients with vitamin D toxicity (28%) and an intense echogenic rim around the pyramids. Group 3 included 10 patients with different types of tubulopathies. A slight hyperechogenic rim around the sides and tip of the medullary pyramids was detected. Group 4 was made up of 9 patients with rare underlying conditions. Abdominal X-rays detected medullary calcinosis in only 12 (24%) of the total 50 patients. Ultrasonography appears to be an important tool in the early diagnosis of increased renal medullary echogenicity and medullary nephrocalcinosis. 相似文献
2.
H. Rougier A. Desrumaux N. Bouchon I. Wroblewski I. Pin F. Nugues E. Mornet G. Baujat 《Archives de pédiatrie》2018,25(7):442-447
Hypophosphatasia (HPP) is a rare disease resulting from alterations of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Perinatal HPP is mainly characterized by bone hypomineralization and severe respiratory insufficiency. We describe a full-term boy diagnosed with perinatal HPP after birth, showing dramatic improvement after treatment with Asfotase Alfa, an enzyme-replacement therapy (ERT) prescribed in HPP cases. He initially presented with respiratory insufficiency due to bone hypomineralization, and severe pulmonary hypoplasia that required tracheostomy and invasive ventilation for 8 months. He was taken off ventilation at 41 weeks of age. He also presented complications including hypercalcemia, craniosynostosis, nephrocalcinosis, hypotonia, and a severe feeding disorder. He is still alive at 30 months of age, and his respiratory status and tonus is steadily improving. This case reflects the progression of HPP patients with specific therapy added to symptomatic management. Some aspects of the disease are now well known, such as nephrocalcinosis and craniosynostosis, related to the natural course of the disease, which persisted despite the ERT. The long-term prognosis and outcome for this newborn child remain unknown. 相似文献
3.
Hypophosphatasia (HPP) is an inherited skeletal disease with features of hypomineralization of bone and early exfoliation of primary teeth due to disturbed cementum formation. Recent introduction of enzyme replacement therapy has reduced mortality in severe cases, though the effects of that treatment on dental manifestations remain unknown. We examined an avulsed primary incisor in a 3-year-old female diagnosed with perinatal HPP who underwent enzyme replacement therapy from 1 day after birth and report our findings. 相似文献
4.
《Annales d'endocrinologie》2022,83(1):46-53
Throughout the world, millions of people suffer from fragilizing osteopathies such as osteomalacia and osteoporosis. Osteomalacia is a rare disorder, corresponding to mineralization abnormalities in adult bone, as opposed to rickets in children. Renal phosphate loss and hypophosphatasia are the main causes of vitamin-resistant osteomalacia. Diagnosis is based on clinical history, phosphocalcic metabolism assessment and, if necessary, molecular characterization, and must be rapid in order to initiate the most appropriate treatment and consider new treatments such as burosumab if necessary. Osteoporosis is characterized by reduced bone mass and strength, which increases the risk of fragility fracture. Fracture-related burden is expected to increase over the coming decades linked to the aging of population and a treatment gap. In order to reduce this treatment gap, it is important to develop two strategies: improvement of screening and of treatment. Systematic screening using the FRAX® fracture risk assessment tool could be useful to increase anti-osteoporosis medical treatment and reduce fracture rates. The question of treatment sequencing in osteoporosis is another challenge, notably after denosumab cessation, complicated by a decrease in bone mineral density and increased risk of fracture. New treatments are also available, including romosozumab, a humanized monoclonal antibody, which promotes bone formation and inhibits bone resorption by inhibiting sclerostin. Romosozumab is approved in several countries, including France, for treating severe osteoporosis in postmenopausal women at high risk of fracture and free of cardiovascular comorbidity. Endocrinologists need to be aware of these fragilizing osteopathies in order to improve both diagnosis and treatment. 相似文献
5.
低磷酸酶血症(HPP)是由编码组织非特异性碱性磷酸酶(TNSALP)的基因变异导致功能缺失引起的。HPP的症状、体征和并发症非常多变,包括骨骼低矿化、钙和磷酸盐代谢障碍、反复发生的骨折、疼痛、活动受限、牙齿过早脱落、生长发育迟缓和癫痫等。针对HPP有不同的治疗尝试,Asfotase alfa是一种骨靶向重组TNSALP... 相似文献
6.
Doc. Dr. K. Kozlowski J. Sutcliffe A. Barylak G. Harrington H. Kemperdick K. Nolte H. Rheinwein P. S. Thomas W. Uniecka 《Pediatric radiology》1976,5(2):103-117
Radiographic analysis of 24 cases of hypophosphatasia (H) from 9 Paediatric Centres was performed. 3 cases were of neonatal (lethal), 18 cases of infantile (severe) and 3 cases of late (benign) type. Some of the patients were in reality borderline cases between these groups.In the authors' material all the patients showed radiographic signs of the disease. These were divided into diagnostic, characteristic and suggestive features.All of the patients had in common generalised (usually irregular) osteoporosis, generalised (usually irregular) metaphyseal changes, craniostenosis (13 of 18 infantile cases) or widened cranial sutures and often bowing of the long bones.Besides the well know radiographic features of hypophosphatasia some less well known, rare or new ones such as, 1. spurs of the long bones (Bowdler sign), 2. distal femoral central metaphyseal defects and epiphyseal defects, 3. S-like deformities of the tibiae, 4. abnormal shape of the distal phalanges of the fingers, 5. multiple rib fractures and slender bones, 6. wedging of the lower thoracic and upper lumbar vertebrae, 7. partial premature fusion of the epiphyses, 8. nephrocalcinosis, 9. loss of lamina dura around the teeth, 10. variation in radiographic appearances of a pair of siblings with lethal form, and, 11. rapid changes in roentgen appearances, are discussed. In two of our patients (siblings) phosphoethanolamine was undetectable in the urine.The authors doubt if a normal skeletal survey may be present at any stage in any of the three major types of hypophosphatasia.Presented at the 13th Meeting of the European Society of Paediatric Radiology, Stockholm, Sweden, May 19–22, 1976, and at the 27th Annual General and Scientific Meeting of the Royal Australian College of Radiologists, Jakarta, Indonesia, October 10–15, 1976 相似文献
7.
David A. Baab Roy C. Page Jeffrey L. Ebersole Betsy L. Williams C. Ronald Scott 《Journal of clinical periodontology》1986,13(7):677-683
In a previous publication, we described the clinical and radiographic findings of a family in which the children manifested premature exfoliation of the deciduous teeth. We now report for the same family the results of extensive laboratory studies performed on blood and urine, analysis of periodontal microflora, and a family pedigree. We demonstrated the presence of putative periodontal pathogens in the subgingival microflora, elevated levels of serum antibodies reacting to Bacteroides gingivalis, Capnocytophaga gingivalis, and C. sputigena in 2 of the children, and significantly suppressed monocyte chemotaxis in all 3 children. Phosphoethanolamine was found in the urine of the father and all 3 children, but not in the mother. Likewise, serum alkaline phosphatase was abnormally low for all 3 children, and was at the extreme low end of normal range for the father, but was normal for the mother. On the basis of the alkaline phosphatase and phosphoethanolamine measurements, we assigned a diagnosis of hypophosphatasia to the 3 children. Phosphoethanolamine and alkaline phosphatase were also abnormal in the paternal grandmother and her brother. The son of this brother who was deceased had a daughter manifesting premature loss of the primary teeth. The data are consistent with an autosomal dominant mode of transmission. In the light of our findings, hypoplastic cementum must be considered in the etiology of some forms of early-onset periodontitis. 相似文献
8.
H. Collmann E. Mornet S. Gattenlöhner C. Beck H. Girschick 《Child's nervous system》2009,25(2):217-223
Objective Hypophosphatasia (HPP; MIM241510) is a rare inborn error of bone metabolism of recessive inheritance. It is caused by mutations
in the gene encoding the tissue-nonspecific alkaline phosphatase. Apart from problems in bone mineralization, growth failure,
and premature loss of decidual teeth, the infantile and the childhood types of HPP are associated with premature fusion of
cranial sutures.
Patients We report on seven children affected with infantile and childhood HPP who presented with craniosynostosis.
Results Neurosurgical intervention was necessary in four of them because of intracranial hypertension. In one of these, severe dural
calcification posed an unexpected problem during surgery. Secondary ectopia of the cerebellar tonsils were detected in five
of the seven patients and caused hydrosyringomyelia in one of them.
Conclusions Since cranial sutures are frequently involved in infantile and childhood HPP, a multidisciplinary approach for the clinical
care is necessary, including long-term neurosurgical surveillance. 相似文献
9.
10.
Moulin P Vaysse F Bieth E Mornet E Gennero I Dalicieux-Laurencin S Baunin C Tauber MT De Gauzy JS Salles JP 《European journal of pediatrics》2009,168(7):783-788
Hypophosphatasia is an inheritable disorder characterised by defective bone mineralisation due to the impaired activity of
tissue-non-specific alkaline phosphatase (AP). Clinical presentation ranges from stillbirth without mineralised bone to pathological
fractures in late adulthood. During childhood, the main manifestations include rickets, growth delay and dental problems.
Fractures and bone pain usually characterise the adult form. A 9-year-old girl was referred for repetitive fractures after
minimal trauma. She had normal growth, normal sclerae, no rickets and minimal dental abnormalities. Her sister had also presented
fractures. The proband, her sister and mother had low total and bone-specific AP levels and E435K mutation in exon 12 of the
liver/bone/kidney AP gene. Low AP levels must lead to genetic analysis. Bone fragility and repetitive fractures may be symptoms
of hypophosphatasia in childhood, which must not be neglected. Associated factors such as vitamin D or calcium deficiency
must be prevented. In conclusion, hypophosphatasia must not be forgotten as an aetiological factor of repetitive fractures
or bone pain in children and AP activity should be checked accurately. 相似文献