DEPARTMENT Case Study–Primary Care

Rickets: Not Just a Disease
Caused by Vitamin D
Lauren Head Zauche, BSN, RN

KEY WORDS ing progress, she had not begun to crawl or pull to a
Case study, hypophosphatemia, rickets stand by 12 months, and both weight and length drop-
ped to the 5th percentile.
The patient was referred to a neurology specialist at
her 12-month visit to rule out a neurologic cause for
CASE PRESENTATION her symptoms. A complete neurologic examination,
A 2-year, 10-month-old White girl presented to a pedi- including magnetic resonance imaging of the brain
atric clinic with an abnormal wide gait and genu varum. and spine failed to support a neurologic cause. There
She had been an established patient at the clinic since was a considerable gap in care between the ages of
her 4-month well-child visit. Concerns regarding her 12 months and 24 months. At the patient’s 24-month
motor development were noted at her 6-month well- visit, she was unable to walk, and her weight had
child visit, when she presented with generalized muscle both fallen below the 5th percentile and her length
hypotonia, was unable to roll supine to prone or prone below the 10th percentile. Although the patient was
to supine, and was unable to sit unassisted. Addition- referred to an orthopedic specialist during her 24-
ally, the patient had dropped to the 5th to 10th percen- month well-child visit, the visit did not take place
tile for weight at 6 months from the 25th percentile at because of the family’s loss of medical insurance. The
her 4-month visit. At her 6-month visit, the patient patient was lost to follow-up between her 24-month
was referred to a statewide program for infants and tod- visit and her visit at 2 years 10 months.
dlers with developmental delays for nutritional support
and physical therapy. After 1 month in this program, the Medical History
patient’s development significantly improved, and she The patient was born via a spontaneous vaginal deliv-
was able to roll over in each direction and was able to ery at 37 gestational weeks with no prenatal or postnatal
sit unsupported at 12 months. Although she was mak- complications. Her birth weight was 3.2 kg. The stan-
dard 48-hour hospitalization after birth was uneventful,
and her newborn screening result was normal.
Lauren Head Zauche, Doctoral Student and Pediatric Nurse
Practitioner Student, Emory University Nell Hodgson Woodruff Family Medical History
School of Nursing, Atlanta, GA. The family history was negative for any childhood dis-
Conflicts of interest: None to report. eases, including genetic, endocrine, and metabolic ab-
Correspondence: Lauren Head Zauche, BSN, RN, Emory normalities. However, the patient’s mother reported
University Nell Hodgson Woodruff School of Nursing, 1520 Clifton that as a child, she was also delayed in meeting mile-
Rd NE, Atlanta, GA 30329; e-mail: stones in the gross motor developmental domain, and
J Pediatr Health Care. (2016) -, ---. she had short stature, at a height of 4 feet 10 inches.
No other pertinent family history was noted.
Copyright Q 2016 by the National Association of Pediatric Social History
Nurse Practitioners. Published by Elsevier Inc. All rights The patient lived at home in a one-bedroom apartment
with her mother and two older siblings in a rural area. The patient and her siblings had recently returned -/- 2016 1

Another genetic form of rickets is 2 Volume . phosphate. Vitamin D 1a-hydroxylase rickets. the patient was not in any pain while standing. and how does its pa- thology differ from other forms of rickets? 2. What is the etiology and pathophysiology of X-linked hypophosphatemic (XLH) rickets. 2012). 2008). walking. Full- length leg. As growing bones fail to mineralize or ossify as a result hypocalcemia develops. 1. and serum phosphate level other developmental domains except gross motor was 1. The patient’s violence. and phosphate. but normal strength and full The patient attended daycare 3 days a week and stayed range of motion were observed in the upper extrem- at home with her mother the remaining time. How is XLH rickets diagnosed and treated? 4. 2008). kidney disorders that can result in enced by vitamin D and the parathyroid hormone hypophosphatemia and rickets include Fanconi (PTH.from a 2-month stay in foster care because of domestic growth chart. public health measures to ensure of-function mutation occurs in the gene that encodes that children receive an adequate vitamin D intake 1a-hydroxylase enzyme. including nutritional lead to increased phosphate excretion (Holm. and the remainder of the review of sys. 2008). causes. 2011. What are challenges associated with caring for a patient with XLH rickets in a rural setting? CASE STUDY ANSWERS 1.25 referred to as nutritional rickets. hip. weighed 10. although breastfed infants who do (Holm. Serum 1. or vitamin D-deficient [OH]2D). or vitamin D occur. Her vital signs were normal. According to the mother. All were normal. and she had not experienced muscle spasms or A pediatric nurse practitioner ordered a comprehen- tremors. The remainder of Review of Systems the physical examination findings were normal. 2012). 2012). including serum calcium level. kidney disorders. which involves defects in the proximal a variety of different factors that affect the levels of cal. for which her mother obtained a restraining gait was wide and showed waddling. What are differential diagnoses for XLH rickets. with a height of and knees and with evidence of subperiosteal bone 81 cm (<3rd percentile) according to a standardized resorption. and vitamin D. with cupping of metaphyses at the tibia. both of which cium. that control the response of the body to 25-hydroxy The most commonly recognized form of rickets is vitamin D (25[OH]D).25(OH)2D deficient rickets. results from the comprehensive metabolic panel tems results were negative. ities. Significant genu varum was noted. Holm. CASE STUDY QUESTIONS 1. sleeping 8 to sive metabolic panel. No scoliosis or widening of the ribs was present. and renal tubular acidosis. Diagnostic Tests ities. and phosphate as hydroxyapatite crystals and is influ. including elevation in PTH and mobilization of (Greenbaum. were normal. At the time of the visit. renal tubule. Rickets can be caused by syndrome. In normal bone metabolism.25-dihydroxyvitamin D (1. All range = 36–108 pmol/L). preventing 25(OH)D from have drastically reduced the prevalence of vitamin-D being converted into the active form. the strength and range of motion were noted bilaterally in mother had no support or help from any other relatives. resulting in decreased bone bone is formed through the mineralization of calcium density (Holm. Number . compensatory mechanisms of a deficiency in calcium. Penido & Alon. phosphorus.7 mg/dl (reference range = 2. the lower extremities. Penido & Alon.6 mg/dl).25- The patient ate a well-balanced diet. Furthermore. calcium from the bone. What is the etiology and pathophysiology of XLH not receive vitamin D supplementation are at risk rickets.25-dihydroxyvitamin D tests. 2008. or moving her lower extrem.0 kg (<3rd percentile). In vitamin D-deficient rickets. along with serum phosphate 10 hours at night with a 2-hour nap during the day. The patient’s bones appeared osteo- The patient. who was 2 years and 10 months old. penic. fibula. 1. and what is the clinical presentation of XLH rickets? 3. and how does its pathology differ from other (Holm. and 1. and genetic abnormalities Rickets may also result from genetic abnormalities (Greenbaum. including fruits dihydroxyvitamin D level was 45 pmol/L (reference and vegetables and sources of iron and calcium. decreased forms of rickets? vitamin D intake impairs calcium and phosphate ab- Rickets refers to a disease in children in which sorption from the intestines (Penido & Alon. The patient was fatigued often. and tibia/fibula radiologic films were Physical Examination also ordered. 2008).5–4. Although prevalent in the United States in the deficiency is a genetic form of rickets in which a loss- early 20th century. 2011). Journal of Pediatric Health Care . Decreased order against the father. -/. which leads to bending of affect both boys and girls. 2011). and short stature. Pavone et al. For instance. Pavone et al. were to thrive and motor developmental delays in infancy not affected. Holm. 2008). or phos- unknown. Greenbaum. As a result. ities. hypophosphatemic rickets can be caused by a gain. tabes and chest deformities. Genetic pedigree of patient for X-linked hypophosphatemic (XLH) rickets.. Hwu. caused by vitamin D 1a-hydroxylase deficiency Holm. but no sons. 2008). phorus. children with rickets Goldsweig & Carpenter.2016 3 . 2015. this disease can obtain adequate density. tissues in the body are resis. 2015. renal tubular childhood. 2011. Normally. chance of being affected. As a result. 2008). without bone disease. and other genetic (Greenbaum. pedigree of the patient’s family for XLH rickets. The Figure shows the genetic abnormalities (Greenbaum. 2014). acidosis. FGF-23 is released usually present with alopecia (Holm. the bones do not it is an X-linked dominant disorder. PHEX controls the breakdown of FGF-23 and thus Rickets may also result from an autosomal trait or an regulates the renal excretion of phosphate (Penido X-linked dominant trait that leads to hypophosphate. and Differential diagnoses of XLH rickets include failure her two older children. 2015). less (Holm. each child has a 50% 2. layed acquisition of motor skills. 2008. Fanconi syndrome. phosphorus specific cause and the age of each child (Greenbaum. tant to vitamin D. 2015). In addition to calcitriol and PTH. Pavone et al. which was the case for the mother of the patient pseudohypoparathryoidism. Some individuals with XLH rickets can (Greenbaum.. the clinical symptoms differ depending on the 2014). 2011. Although the presentation of all forms of XLH rickets results from a mutation of the rickets includes decreased growth rate. which is phosphate cotransporters (Goldsweig & Carpenter. one boy and one girl. phosphate is reabsorbed from the kidney.. the bones when they are subjected to weight all daughters.. phosphate available for bone mineralization. Holm. and skeletal abnormal- some (Goldsweig & Carpenter. will be affected. With low serum phosphate level. trary.hereditary 1. serum phosphate levels and accounts for 20% of all fa.25(OH)2D-resistant rickets. delayed motor skills in early diagnoses include nutritional rickets.000 children (Pavone et al. If the father has the disease. which results in renal phosphate wasting or loss-of-function mutation in a gene that regulates (Goldsweig & Carpenter.jpedhc. Pavone et al. in XLH rickets. 2008). cystinosis. What are differential diagnoses for XLH rickets. & Thilakavathy. the and what is the clinical presentation of XLH rickets? mother was unaware that she had the disease.. the defect mia (Razali. 2015. in which growing hypophosphatemic rickets cases and affects nearly 1 bones fail to mineralize and ossify (Greenbaum. hypotonia. & Alon. Other differential have hypophosphatemia. 2011. 2014). bearing or muscle pulling. Individuals by osteocytes and acts on the proximal tubule of with vitamin D-deficient rickets may exhibit cranio- the kidney to decrease the expression of sodium. 2011. 2014). caused by a mutation in the vitamin D receptor 2015.. Family Clinical manifestations of rickets result from the un- history of XLH rickets from previous generations was derlying deficiency in vitamin D. 2008). In this particular case. in every 20. 2008). 2014). As a result. tyrosinemia. 2012). if the mother has the disease. de- phosphate-regulating gene (PHEX) on the X chromo. However. Holm. including widening and FIGURE. www. there is a lack of milial hypophosphatemic rickets (Razali et al. On the con. The XLH rickets accounts for the remaining 80% of familial result of this pathology is rickets. is regulated by fibroblast growth factor-23 (FGF-23. Holm. Because 2011. Autosomal in PHEX leads to a reduced breakdown of FGF-23.

manifestations of Sharkey. the patients with XLH rickets. Some guidelines suggest that it is best (Pavone et al. Most children are not diagnosed to start the elemental phosphorous dosage at 20 to until after the child begins to stand and walk. 2016. 2008). from 20 to normal limits. 2014). 2011). Guidelines for treating hypophosphatemic rickets layed motor milestones. 2008). tion (Harrison groove) Clinical phosphate. However. 2011.swelling of the ribs at the costochondral junction (Greenbaum. short stature. elemental phosphorus. and coxa vara and also for possible surgical evaluation. In addition to phos- radiographic abnormalities (Greenbaum. and genu varum. Greenbaum. frequent dosing of phosphate may 3. 2011. the effects of XHL rickets can adverse reactions (Carpenter. (Holm. 2011). Additionally. (Chan. become severe before any signs and symptoms & Insogna. deficiency in pertinent laboratory test results are normal except for which may include urine phosphate level (Holm. calcitriol should initially be 2008). appear concave. PTH. On x-ray images. and the edges of the metaphyses may and can be titrated up to minimize gastrointestinal ef- lose the appearance of a sharp border as a result of fects (Carpenter et al. 2011). Rec- strength and tone in the upper extremities were within ommendations for dosages vary widely. include a prescription for oral phosphate and calcitriol Only the lower extremities appeared affected. Imel. the child presented with a history of de. Grunseich. Patients who are diagnosed with XLH rickets should legs). All other lower extremities. Sources: Greenbaum (2011) and Holm (2008). patient. Additionally. 2015). a phenomenon known as The patient in this case study was initially started on cupping (Greenbaum. phate supplementation. 2014). 2008). 2008). Jan de Beur. Journal of Pediatric Health Care .. 2015). which reflects uncertainty tive signs are suggestive of XLH rickets. 2011). because at least throughout puberty (Greenbaum. about the optimal dosage to effectively treat yet prevent Unfortunately. phosphate needs calcitriol edge of the metaphyses. Furthermore. because 40 mg/kg/day divided into three to five doses per day the bowing of legs does not occur until a child bears to help prevent diarrhea. a family history of (rachitic rosary) and a horizontal depression along the rickets or short stature would support this diagnosis. and calcitriol levels (LaRosa.. there was no widening or 80 ng/kg/day of calcitriol to 20 to 180 mg/kg/day of swelling of the ribs. genu varum (bow... 2011). 2016. 2011. Holm. resulting in a waddling gait on the severity of skeletal abnormalities (LaRosa. LaRosa.. In this case. 4 Volume . Pavone et al.. vitamin D. calcium. so less frequent dosing is acceptable XLH rickets is diagnosed primarily on the basis of if tolerated (Greenbaum. tibial or femoral or phosphorus. The diagnosis is sup. As shown in er. & Carpenter. the lowest recommended dose of both calcitriol and ported by clinical examination and laboratory test re. lower anterior chest due to the diaphragm pulling on Laboratory tests useful for the diagnosis of XLH rickets the ribs during inspira. Referrals may also be made to an endocrinology Pavone et al. who consulted with a pediatric endocrinologist TABLE. 2014). 2011). depending of the femoral neck. This was the case for this (Greenbaum. specialist (Holm. How is XLH rickets diagnosed and treated? affect adherence. Holm. Laboratory test results for rickets Serum Serum Serum parathyroid Serum Urine calcium phosphate hormone 25(OH)D phosphate Test level level level level level Vitamin D deficient Normal Normal High Low Normal Vitamin D 1a-hydroxylase deficiency Low Low High Low Normal Vitamin D resistant Low Low Normal Normal/slightly low High Familial hypophosphatemic rickets Normal Low Normal Normal/slightly low High Renal disease Low High High Low Low Note. which are normally convex for bone mineralization. skeletal abnormal. or flat. Howev. the bones may appear prescribed at 20 to 30 ng/kg/day divided into two doses osteopenic. 2014. 2016). 2014. These pertinent positive and nega. include urinary phosphate and serum calcium. thickening of the growth plate due to decreased Although calcitriol levels are generally normal in calcification (Greenbaum. 2011). 2016. which can help distinguish the cause of rickets tioner. elemental phosphorus by the pediatric nurse practi- sults. XLH rickets differs from other forms of rickets rickets result from ities in XLH rickets are in that serum 25(OH)D level is generally normal despite usually limited to the the underlying low serum phosphate level (Holm. a common adverse reaction weight (Pavone et al. Cremonesi et al.. Number . Sharkey et al. be referred to a pediatric orthopedist for management torsion. the Table.

2009). increased (Carpenter The goal of therefore.. 2006). to travel over 40 miles to see a specialist. hyperparathyroid. If the pa. Because of the short supply nography should be of pediatric specialists. with oratory tests should include serum phosphate. 2011). and a quarter mia or hypercalciuria. (Pletcher. 2013. Alkaline phosphatase needs of children. Given that Medicaid is the adjusted. In general. 2011). who (Carpenter et al. The goal of treatment is to increase bone mineraliza. chil. significant loss of height will occur elemental phosphorus twice a day (30 mg/kg/day) until if treatment is not started before the age of 2 years she could be seen by the pediatric endocrinologist. Families should be instructed that dental hy. 2011). is essential for early diagnosis. 2011). 2013). which strongly influences outcomes. because children with populations. www. and a urine spot calcium/creatinine ratio should A huge disparity exists in the geographic distribution remain less than -/.over the telephone. deformities. and the wait time was 11 weeks. ral and other underserved areas.. the number of pediatric specialists who with pharmacologic treatment. increase bone of children live over 2 hours away from a pediatric the calcitriol dosage mineralization and specialist (Mayer. (Children’s Hospital Association. have a long distance to travel to receive et al. the goal is not to multiple challenges surrounding access to care..000 to 1:200. 2013) Committee on Pediatric Workforce issued skeletal response. especially if families are working or do not have 2011). tient’s medication. genetic counseling for family members pediatric orthopedic specialist who accepted Medicaid who may consider having a biological child or an was 93 miles away. Rimsza. in particular for children living in ru- should decrease over time. 2012).000 (Basco & Rimsza. Sixty-eight Patients and their families should be educated percent of rural pediatricians reported dissatisfaction about the importance of adhering to the treatment with waiting times for their patients. monitoring growth. the provider-to-children ratio for most specialties at and urinary calcium levels to assess the adequacy of the 1:100. cantly (AAP. ilies. the closest pediatric or- and have routine dental visits (Carpenter et al. dren should brush their teeth two to three times daily In the case presented here. the phosphate dosage can be reduced found within academic centers in urban settings or calcitriol may be (Mayer & Skinner. From 2006 to 2012. Children from rural areas.2016 5 . ing. discuss their future child’s or children’s genetic risk and lack of family support resulted in a delay in care for inheriting XLH. 2015). significant barrier to health care access. 2011). then assumed the responsibility of managing the pa. The patient was prescribed 1 mg of Effects of hypophosphatemia begin in infancy before calcitriol twice a day (20 ng/kg/day) and 150 mg of any leg deformities. of pediatric subspecialists in the United States. access to transportation. Lab. To culty ensuring that their patients are seen by a specialist avoid these complications. alkaline phosphatase level to assess (AAP. and 65% rated regimen to prevent further bone abnormalities and the number of pediatric specialists available as poor risk of surgical correction and about the need for reg.. including diarrhea. because most specialists are PTH is elevated. which indicates bone heal. 2011). specifically height.. but the closest Additionally. ular follow-up to prevent complications associated Furthermore. because this may cause presented with a rare or complicated case in which adverse effects. Therefore. referral is necessary. dosage. thopedic specialist was 55 miles away. Renal ultraso. failure to accept Medicaid poses another XLH rickets are at high risk for dental abscesses. 2010). additional biological child may be warranted to Transportation challenges.. primary health insurance for a large proportion of rural giene is extremely important. loss of health insurance. 2012). forced to wait weeks or months to see a specialist nosis (Carpenter et al. Mayer. If of specialty providers. 2012). the number of riences gastrointestinal adverse effects. treatment is to care. Although modest ele..3 mg/mg (Carpenter et al. serum and urinary creatinine levels to monitor 2006). PTH level to monitor for secondary a policy statement indicating that the current workforce hyperparathyroidism. patient with XLH rickets in a rural setting? vations in serum phosphate levels as result of Caring for pediatric patients in a rural setting presents supplementation are desired. and a random spot urine collec. of pediatric subspecialists is inadequate to meet the tion (Carpenter et al. the American Academy of Pediatrics renal function. pediatric providers may have diffi- ism. because this pediatric orthopedic surgeons who accepted Medicaid may be a sign that the dosage may need to be declined 39% (AAP. 2011). The distance and time required should be decreased prevent leg to travel to see a specialist places a large burden on fam- (Carpenter et al. One third of children in the United States have tient has hypercalce.. & Cull. When normalize phosphate levels. In fact. What are challenges associated with caring for a tion and prevent leg deformities.. there is a shortage 3 months is recommended (Carpenter et al. laboratory monitoring every (Basco & Rimsza. calcium. Families should be accept pediatric Medicaid patients has dropped signifi- told to return for follow-up sooner if the patient expe. and nephrocalcinosis (Sharkey et al.jpedhc. pediatric patients often are performed every 2 to 5 years to check for neprhocalci. 4.

. particularly for patients who live in rural Endocrinology (5th ed. Journal of Bone and Mineral Research. icy statement. Wiley & Sons. arrange transportation with Medicaid if necessary. G. Journal of Pediatrics. O. (2016). statement. 2313-2321. M. Jan de Beur. (2016). 331-341). (2012). (2014). Number . G. E. & Cull. J. Laboratory tests. and barriers to care. A. Grunseich. Elk Grove phatemic rickets. In needed. L. Hypophosphatemic was prescribed both oral phosphate and calcitriol and rickets: Lessons from disrupted FGF23 control of phos- continued to receive physical therapy. helping to phosphatemia. Gioitta Iachino. Penido. St. Brown (Eds. and to ensure early treatment. NJ: Merck & Co. 13(2). Inc. T. Pediatrician workforce pol. Pediatric Carpenter.. C. & providers can help children access care by assessing the Insogna. it is important to follow up with patients to pro. childrenshospitals. Primary care Close. As illustrated by this case. especially for serum Mayer. C... U. G... & Piana. S. K. A thorough family history Sessa. (2006). 390-397...medscape. S. features and treatment. Kliegman. Brook.. B. Avondo.. In C. I. A. supply. PA: Elsevier Health Sciences. Journal of American Academy of Village: Author. K. 221-226. L.. (2010).). S. Given the challenges of seeing a P. and orthopedic or motor 118(6). T. pp. T. F. W. its role in bone health. NJ: John areas. Fewer orthopedic surgeons rary medical and surgical management of X-linked hypophos- accepting pediatric medicaid patients [Press release]. (2014). Hwu. Rimsza. C. Nucci. (Ed. Influence of changes in supply on the distribution of pediatric subspecialty care. (2015). CPNP-BC for her help with this case.of over a year from the time when the first referral was about-the-aap/aap-press-room/Pages/Fewer-Orthopedic-Sur made.. Goldsweig. Clayton & R. 1381-1388. & Carpenter. N. (2008).). 2039- 2048. PhD. as early as possible. 456-461. Pediatrics. In R. Mayer. V. it is important to R. M. supply among pediatric medical subspecialties. Journal of Pediatric Endocrinology and Metabolism. Given the signif. 25(2). (2013). 36(4). icant skeletal abnormalities by the time she received 88-97.. abnormalities. Shor (Eds. 1009-1017. pharmacologic treatment. Rickets should be included in the differential diag. The author would like to acknowledge Dr. X-linked hypophosphatemic The child in this case was diagnosed with XLH rickets rickets: enamel abnormalities and oral clinical findings. & Carpenter. O. T. I. C. (2015). E. Pediatrics. (2015). Alkhamis. Archives of phosphate and vitamin D levels. B. LaRosa.. D. S. T. reduce morbidity. A clinician’s guide to X-linked hypo- feasibility of the family seeing a specialist. W. lays in motor development. J. de.. Retrieved from https://www. Orthopedic Surgery. O. screen for rickets when included as a differential before Pavone. pp. & obtaining radiologic films. B. A.. European Journal of Orthopaedic Sur- infants of affected parents should be screened for hypo. I. (2009). Sharkey. (2012). Pediatric Nephrology. & Skinner. Hypophosphatemic rickets: Etiology. A. scape. M. M. Pediatric subspecialty short- progression during the wait time and to ensure that ages affect access to care. 1011-1015. Testa. M. 27(11). 28(9). Pediatrics. early diagnosis is essential to Holm. Are we there yet? Distance to care and relative nosis of children presenting with failure to thrive. K. J. Contempo- American Academy of Pediatrics. surgical correction will be Greenbaum... tages-affect-access-to-care Cremonesi. gery & Traumatology. S. 163(12). Phosphate homeostasis and phosphatemia. N.aspx Basco. T. perceived on this manuscript and Juanita Norris Howard. 390-397. Evola. (2012). S. L. & education/fact-sheets/2012/pediatric-specialist-physician-shor ment with the specialist. Pediatrician workforce policy Advocating for the patient’s health is part of the re. the patient is still able to keep the scheduled appoint. E. Hypophosphatemic rickets. G. Providers should follow up with patients article/922305-overview who are referred to a specialist to monitor any disease Children’s Hospital Association. L. CPNP-BC for her edits and guidance pediatricians’ satisfaction with subspecialty care. 280-292).aap. phorus homeostasis. clinical should always be taken. & Rimsza. and 26(7). Stanton. New York. & Thilakavathy. surance. Merck Manual. March- CONCLUSION ionni. Chan. Disorders of bone metabolism. American Academy of Pediatrics.). Razali. She ning. Sharron Pletcher. R. G. sponsibility of pediatric health care providers. F. Imel. Hoboken. geons-Accepting-Pediatric-Medicaid-Patients.. Porter mote continuity of care. (2011). M. can be ordered to Pediatrics and Adolescent Medicine. Scan- and was followed up by an orthopedic surgeon. 156(6). 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