Term yenidoğanlarda metabolik kemik hastalıkları: Olgu sunumları eşliğinde literatürün gözden geçirilmesi

Yıl 2022, Cilt: 8 Sayı: 3, 250 - 269, 31.12.2022

Samet Benli , Ayşen Orman , Mustafa Aydın

https://doi.org/10.30569/adiyamansaglik.1128658

Öz

Yenidoğan bebeklerin bakımının iyileşmesiyle hasta yenidoğanların yaşam oranları son yıllarda önemli ölçüde artmıştır. Hastalıkların patofizyolojisinin ve genetik temelinin daha iyi anlaşılmasının yanı sıra yeni tanı ve tedavi modalitelerinin geliştirilmesi ile kemik ve mineral bozuklukları alanında hızlı ilerlemeler olmaya devam etmektedir. Tedaviye başlamanın zaman açısından kritik ve hayat kurtarıcı olduğu bazı durumlarda, hızlı teşhis hayati önem taşır. Bu yazıda, yenidoğanın metabolik kemik hastalıklarına yönelik yaklaşımların olgular eşliğinde sunulması amaçlandı. Ancak, prematüre bebeklerde görülen metabolik kemik hastalığı (prematüre osteopenisi) tamamen ayrı bir konu olduğu için bu derlemede bahsedilmemiştir.

Anahtar Kelimeler

Yenidoğan, Metabolik, Kemik, Tanı, Tedavi

Metabolic bone diseases in full-term newborns: A review of the literature with case reports

Öz

With the improvement of newborn care, the survival rate of sick newborns has increased significantly in recent years. Rapid advances continue to be made in the field of bone and mineral disorders, with the development of new diagnostic and therapeutic modalities, as well as a better understanding of the pathophysiology and genetic basis of diseases. In some situations where initiation of treatment is time-critical and life-saving, prompt diagnosis is vital. In this article, it was aimed to present the approaches to metabolic bone diseases of the newborn in the light of cases. However, metabolic bone disease seen in premature infants (osteopenia of prematurity) was not mentioned in this review as it is a completely different issue.

Anahtar Kelimeler

Neonatal, Metabolic, Bone, Diagnosis, Treatment

Kaynakça

• Done SL. Fetal and neonatal bone health: update on bone growth and manifestations in health and disease. Pediatr Radiol 2012; 42 Suppl 1: S158-S176.
• Bahado-Singh RO, Raymond M. The 20-week scan: beyond biometry and anatomy. Clin Obstet Gynecol 2007; 50: 478-486.
• Saraff V, Nadar R, Shaw N. Neonatal bone disorders. Front Pediatr 2021; 9: 602552.
• Kaplan Bİ, Bulut MO, İçağasıoğlu D, Gültekin A, Sezgin İ, Temur Z. Yenidoğanda osteogenezis imperfekta tip III: prenatal tanının önemi. Tepecik Eğitim Hastanesi Dergisi 2010; 20: 147-149.
• Marini JC. Osteogenesis imperfecta In: Kliegman RM, Stanton B, St Geme J, Schor N, Behrman RE, eds. Nelson textbook of pediatrics. 19th edn. Philadelphia: Elsevier Health Sciences, 2011: 2437-2440.
• Hackley L, Merritt L. Osteogenesis imperfecta in the neonate. Adv Neonatal Care 2008; 8: 21-30; quiz 31-32.
• Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16: 101-116.
• Salamon PB, Okagaki HI. Osteogenesis imperfecta and adrenal genital syndrome. Clin Orthop Relat Res 1974; 103: 204-205.
• National Institutes of Arthritis and Musculoskeletal and Skin Diseases. Osteogenesis imperfecta overview. Available from: https://www.bones.nih.gov/health-info/bone/osteogenesis-imperfecta/overview. Accessed February 6, 2022.
• Bulas DI, Stern HJ, Rosenbaum KN, et al. Variable prenatal appearance of osteogenesis imperfecta. J Ultrasound Med 1994; 13: 419-427.
• Thompson EM. Non-invasive prenatal diagnosis of osteogenesis imperfecta. Am J Med Genet 1993; 45: 201-206.
• Ablin DS. Osteogenesis imperfecta: a review. Can Assoc Radiol J 1998; 49: 110-123.
• Chines A, Boniface A, McAlister W, Whyte M. Hypercalciuria in osteogenesis imperfecta: a follow-up study to assess renal effects. Bone 1995; 16: 333-339.
• Munns CF, Rauch F, Mier RJ, Glorieux FH. Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta. Bone 2004; 35: 231-234.
• Hakan N, Çetinkaya PU, Aydın M. Tanatoforik displazi tip 1 tanısı konulan bir yenidoğan olgusu. Fırat Üniversitesi Sağlık Bilimleri Dergisi 2019; 33: 191-194.
• Wilcox WR, Tavormina PL, Krakow D, et al. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet 1998; 78: 274-281.
• Baitner AC, Maurer SG, Gruen MB, Di Cesare PE. The genetic basis of the osteochondrodysplasias. J Pediatr Orthop 2000; 20: 594-605.
• Wainwright H. Thanatophoric dysplasia: A review. S Afr Med J 2016; 106: S50-S53.
• Dighe M, Fligner C, Cheng E, Warren B, Dubinsky T. Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases. Radiographics 2008; 28: 1061-1077.
• Velinov M, Slaugenhaupt SA, Stoilov I Scott CI, Gusella JF, Tsipouras T. The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nat Genet 1994; 6: 314-317.
• Katsumata N, Kuno T, Miyazaki S, et al. G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. Endocr J 1998; 45 Suppl: S171-S174.
• Kuno T, Fujita I, Miyazaki S, Katsumata N. Markers for bone metabolism in a long-lived case of thanatophoric dysplasia. Endocr J 2000; 47 Suppl: S141-S144.
• Nikkel SM, Major N, King WJ. Growth and development in thanatophoric dysplasia - an update 25 years later. Clin Case Rep 2013; 1: 75-78.
• Miller E, Blaser S, Shannon P, Widjaja E. Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol 2009; 192: 48-51.
• Li D, Liao C, Ma X, Li Q, Tang X. Thanatophoric dysplasia type 2 with encephalocele during the second trimester. Am J Med Genet A 2006; 140: 1476-1477.
• Jin M, Yu Y, Qi H, et al. A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia. Hum Mol Genet 2012; 21: 5443-5455.
• Arun P, Gagandeep V, Moinuddin Md. K, Nagabhushan BM. A Term female neonate with achondroplasia: A case report. Indian Journal of Neonatal Medicine and Research 2017; 5: NC01-NC02.
• Orioli IM, Castilla EE, Scarano G, Mastroiacovo P. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. Am J Med Genet 1995; 59: 209-217.
• Pauli RM, Legare JM. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/ NBK1152/?report=classic.
• Ornitz DM, Legeai-Mallet L. Achondroplasia: Development, pathogenesis, and therapy. Dev Dyn 2017; 246: 291-309.
• Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet 2007; 370: 162-172.
• Eswarakumar VP, Lax I, Schlessinger J. Cellular signaling by fibroblast growth factor receptors. Cytokine Growth Factor Rev 2005; 16: 139-149.
• Arnheim N, Calabrese P. Understanding what determines the frequency and pattern of human germline mutations. Nat Rev Genet 2009; 10: 478-488.
• van Rhijn BW, van Tilborg AA, Lurkin I, et al. Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders. Eur J Hum Genet 2002; 10: 819-824.
• Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev 2000; 21: 23-39.
• Patil SJ, Banerjee M, Phadke SR, Mittal B. Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis. Indian J Pediatr 2009; 76: 147-149.
• Güngör S, Celiloğlu C, Kocamaz E, Özen M, Akıncı A. Rizomelik kondrodisplazia punktata. İnönü Üniversitesi Tıp Fakültesi Dergisi 2006; 13: 181-184.
• Brown FR 3rd, Voigt R, Singh AK, Singh I. Peroxisomal disorders. Neurodevelopmental and biochemical aspects. Am J Dis Child 1993; 147: 617-626.
• Bams-Mengerink AM, Majoie CB, Duran M, et al. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology 2006; 66: 798-803; discussion 789.
• Raymond GV. Peroxisomal disorders. Curr Opin Pediatr 1999; 11: 572-576.
• Moser HW. Disorders of very long chain fatty acids. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, Behrman RE (Eds). Nelson Textbook of Pediatrics. 19th edn. Philadelphia: Elsevier, Saunders, 2011: 462-470.
• Braverman NE, Moser AB, Steinberg SJ. Rhizomelic chondrodysplasia punctata type 1. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (Eds). GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle, 1993. (Available from http://www.ncbi.nlm.nih.gov/books/NBK1270, Updated November 13, 2021).
• Silene D. Genetic skeletal dysplasias. In: Rudolph AM, Hoffman JIE, Rudolph CD (Eds). Rudolph’s Pediatrics. 20th edn. Norwalk, Conn: Appleton&Lange, 1996; 383.
• Westvik J, Lachman RS. Coronal and sagittal clefts in skeletal dysplasias. Pediatr Radiol 1998; 28: 764-770.
• Viola A, Confort-Gouny S, Ranjeva JP, et al. MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. AJNR Am J Neuroradiol 2002; 23: 480-483.
• White AL, Modaff P, Holland-Morris F, Pauli RM. Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A 2003; 118A: 332-342.
• Akkuş PZ, Takçı Ş, Ütine E, Sivri HS, Yurdakök M. Rizomelik kondrodisplazi punktata: Bir vaka takdimi. Çocuk Sağlığı ve Hastalıkları Dergisi 2013; 56: 188-191.
• Deepak NK, Meshram K, Rupani M, Sheikh S. Unusual presentation of vitamin D deficiency rickets in a 6 day old extremely low birth weight baby. Indian J Child Health 2016; 3: 174-177.
• Macdonald HM, Mavroeidi A, Fraser WD, et al. Sunlight and dietary contributions to the seasonal vitamin D status of cohorts of healthy postmenopausal women living at northerly latitudes: A major cause for concern? Osteoporos Int 2011; 22: 2461-2472.
• Shaw NJ, Mughal MZ. Vitamin D and child health part 1 (skeletal aspects). Arch Dis Child 2013; 98: 363-367.
• Við Streym S, Kristine Moller U, Rejnmark L, Heickendorff L, Mosekilde L, Vestergaard P. Maternal and infant vitamin D status during the first 9 months of infant life-a cohort study. Eur J Clin Nutr 2013; 67: 1022-1028.
• Thandrayen K, Pettifor JM. Maternal vitamin D status: Implications for the development of infantile nutritional rickets. Rheum Dis Clin North Am 2012; 38: 61-79.
• Elidrissy AT. The return of congenital rickets, are we missing occult cases? Calcif Tissue Int 2016; 99: 227-236.
• Yeşiltepe-Mutlu G, Özsu E, Oruç M, Çizmecioğlu FM, Hatun Ş. Maternal D vitamini eksikliğine bağlı hipokalsemik nöbet nasıl önlenebilir? Çocuk Sağlığı ve Hastalıkları Dergisi 2011; 54: 79-82.
• Can G. Konvülziyonlar. İçinde: Yurdakök M, Erdem G (Editörler). Türk Neonatoloji Derneği-Neonatoloji, Ankara: Alp Ofset, 2004: 729-737.
• Hollis BW, Wagner CL. Assessment of dietary vitamin D requirements during pregnancy and lactation. Am J Clin Nutr 2004; 79: 717-726.
• Andiran N, Yordam N, Ozön A. Risk factors for vitamin D deficiency in breast-fed newborns and their mothers. Nutrition 2002; 18: 47-50.
• Mutlu M, Saygın B, Okur EG, Aslan Y, Ökten A. Doğumsal rahitis: İki vaka sunumu. Çocuk Dergisi 2010; 10: 38-40.
• Ataş A, Çakmak A, Soran M. D vitamin metabolizması ve rikets hastalığı. Bakırköy Tıp Dergisi 2008; 4: 1-7.
• Hatun Ş, Bereket A, Çalıkoğlu AS, Özkan B. Günümüzde D vitamini yetersizliği ve nütrisyonel rikets. Çocuk Sağlığı ve Hastalıkları Dergisi 2003; 46: 224-241.
• Bozdağ Ş, Erdeve Ö, Oğuz ŞS, Gökmen T, Uraş N, Dilmen U. Perinatal letal hipofosfatazya: Olgu sunumu. Türk Ped Arş 2010; 45: 373-376.
• Linglart A, Biosse-Duplan M. Hypophosphatasia. Curr Osteoporos Rep 2016; 14: 95-105.
• Rathbun JC. Hypophosphatasia; a new developmental anomaly. Am J Dis Child 1948; 75: 822-831.
• Bianchi ML. Hypophosphatasia: An overview of the disease and its treatment. Osteoporos Int 2015; 26: 2743-2757.
• Hessle L, Johnson KA, Anderson HC, et al. Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Proc Natl Acad Sci U S A 2002; 99: 9445-9449.
• Simon-Bouy B, Taillandier A, Fauvert D, et al. Hypophosphatasia: Molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenat Diagn 2008; 28: 993-998.
• Wenkert D, McAlister WH, Coburn SP, et al. Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). J Bone Miner Res 2011; 26: 2389-2398.
• Stevenson DA, Carey JC, Coburn SP, et al. Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. J Clin Endocrinol Metab 2008; 93: 3443-3448.
• Picton A, Nadar R, Pelivan A, Garikapati V, Saraff V. Hypophosphatasia mimicking hypoxic-ischaemic encephalopathy: Early recognition and management. Arch Dis Child 2021; 106: 189-191.
• Lam ACF, Lam CW, Tang MHY, Chu JWY, Lam STS. A case of perinatal lethal form of hypophosphatasia; and review of literatures. HK J Paediatr (new series) 2006; 11: 341-346.
• Saraff V, Narayanan VK, Lawson AJ, Shaw JN, Preece MA, Högler W. A diagnostic algorithm for children with low alkaline phosphatase activities: Lessons learned from laboratory screening for hypophosphatasia. J Pediatr 2016; 172: 181-186.e1.
• Naseria M, Kaveha M, Kamrani K, Habibi M, Haghshenas Z. Severe hypercalcemia due to primary neonatal hyperparathyroidism in an 8-day-old neonate: A case report. Int J Clin Pediatr 2014; 3: 94-96.
• Pollak MR, Chou YH, Marx SJ, et al. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest 1994; 93: 1108-1112.
• Gannon AW, Monk HM, Levine MA. Cinacalcet monotherapy in neonatal severe hyperparathyroidism: A case study and review. J Clin Endocrinol Metab 2014; 99: 7-11.
• Hendy GN, D’Souza-Li L, Yang B, Canaff L, Cole DE. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 2000; 16: 281-296.
• Brickman TM, Stark MW, Jeyakumar A. Unusual case of neonatal hypercalcemia. Int J Pediatr Otorhinolaryngol 2015; 79: 758-759.
• Marx SJ, Lourenço DM Jr. Familial hyperparathyroidism - disorders of growth and secretion in hormone-secretory tissue. Horm Metab Res 2017; 49: 805-815.
• Demirel N, Aydin M, Zenciroglu A, et al. Hyperparathyroidism secondary to maternal hypoparathyroidism and vitamin D deficiency: an uncommon cause of neonatal respiratory distress. Ann Trop Paediatr 2009; 29: 149-154.
• Marini F, Cianferotti L, Giusti F, Brandi ML. Molecular genetics in primary hyperparathyroidism: The role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update. Clin Cases Miner Bone Metab 2017; 14: 60-70.
• Al-Shanafey S, Al-Hosaini R, Al-Ashwal A, Al-Rabeeah A. Surgical management of severe neonatal hyperparathyroidism: One center’s experience. J Pediatr Surg 2010; 45: 714-717.
• Shiva S, Nikzad A, Aslanabadi S, Montazeri V, Nikzad MR. Severe neonatal hypercalcemia due to primary hyperparathyroidism; a case report. Iran J Pediatr 2008; 18: 277-280.
• Türker G, Hatun S, Gülleroğlu K, Cizmecioğlu F, Gökalp AS, Cokun T. Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease): report of two cases. Turk J Pediatr 2005; 47: 376-378.
• McKusick VA. Mendelian Inheritance in Man and its online version, OMIM. Am J Hum Genet 2007; 80: 588-604.
• Köse S, Aerts Kaya F, Kuşkonmaz B, Uçkan Çetinkaya D. Characterization of mesenchymal stem cells in mucolipidosis type II (I-cell disease). Turk J Biol 2019; 43: 171-178.
• Lin MH, Pitukcheewanont P. Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature. J Pediatr Endocrinol Metab 2012; 25: 191-195.
• Kumar TS, Scott JX, Raghupathy P, Moses PD. Mucolipidosis II (I - cell disease). J Postgrad Med 2005; 51: 232-233.
• Borg SA, Bishop NJ. New diagnostic modalities and emerging treatments for neonatal bone disease. Early Hum Dev 2018; 126: 32-37.