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Part 26-3. The Endocrine System

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623.10 Toe Deformities

Syndactly

; aysmptomatic, positive family history

# Classification

    ; zygosyndactly

           - complete or incomplete webbing

           - between 2nd and 3rd toe

    ; polysyndactly

           - duplication of fifth toe and syndactly between 4th and 5th toes

           - synostosis of lateral metatarsals

Treatment

    ; zygosyndactly

           - no treatment

    ; polysyndactly

           - associated anomalies

Chapter 629. The Neck

629.1 Torticollis

¡ÚTable 629-1

# muscular torticollis

    ; *¡ãcommon

    ; *resulting from injury to SCM muscle

Clinical Manifestation

# muscular torticolis

    ; palpable mass in inferior aspect of SCM muscle

    ; normal neurologic sign

Radiographic Evaluation

Treatment

# muscular torticolis

    ; passive stretching

Chapter 647. Metabolic Bone Disease

 1) boneÀÇ Æ¯Â¡

   1.dynamic organ capable of rapid turnover, weight bearing, and withstanding the stresses 

     of a variety of physical activities

   2.²÷ÀÓ¾øÀÌ modeling(being formed) and remodeling(reformed)À»  ÁøÇàÇÔ.

   3. major body reservoir for calcium, phosphorus, and magnesium

 2)human skeleton ±¸¼º

   1. protein matrix

      90% of bone proteinÀº collagen-containing osteoidÀ̸ç , ±× ¿Ü osteocalcin µî

   2.crystalline mineral phase

 3)bone growth in children

    :by the process of calcification of the cartilage cells present at the ends of bone

 4)main function of the vitamin D-PTH-endocrine axis

    :to maintain the ECF calcium and phosphate concentrations

 5) ±× ¿Ü growth and mineralization of cartilage¸¦ Á¶ÀýÇÏ´Â hormone

   1. GH acting through somatomedins, thyroid H, insulin, androgens, and estrogens during

       the pubertal growth spurt.

   2.¹Ý´ë·Î supraphysiologic concentrations of glucocorticoids´Â cartilage function°ú bone

       growth¸¦ ¾ïÁ¦ÇÔ.

 

 

24.60 rickets (see also Sec. 4.29.)

 

 1)rates of bone formationÀº intestine°ú kidneyÀÇ mineral metabolismÀÇ º¯È­¿¡ ÀÇÇØ¼­

     Á¶ÀýµÈ´Ù

   1.calcium homeostasis

    a. calcium homeostasis´Â intestine¿¡¼­ Á¶ÀýµÊ.

    b. inadequate dietary intake or intestinal absorption of calciumÀº serum calcium°ú ionized

       fractionÀ» ÀúÇϽÃÄÑ, PTHÀÇ synthesis¿Í secretionÀ» Áõ°¡½ÃÅ´

     a) greater bone resorption to raise serum calcium

     b)enhanced distal tubular reabsorption of calcium

     c) higher rates of synthesis by the kidney of 1, 25-dihydroxy V-D (the most active

          V-D)

   2.phosphate homeostasis

    a. phosphate homeostasis´Â kidney¿¡¼­ Á¶ÀýµÊ.

     ÀÌÀ¯  a)intestinal phosphate absorption is nearly complete

           b)renal excretion determines the serum level.

    b.excessive intestinal phosphate absorptionÀº serum ionized calciumÀ» ÀúÇϽÃ۰í , PTH

      secretionÀ» Áõ°¡½ÃŲ´Ù.  

      :phosphaturia, lowering serum phosphate, and permitting calcium to rise

    c.hypophosphatemia: PTH secretionÀ» ¾ïÁ¦Çϰí renal 1,25(OH)2 synthesis¸¦ Áõ°¡½ÃÅ´ .

       ÀÌ´Â intestinal phosphate aabsorptionÀ» Áõ°¡½ÃÅ´

 2)An understanding of the metabolism of vitamin D (Fig 24-38)

   1. in skin

    a. 7-dehydrocholesterolÀÌ ÀÖÀ¸¸ç , UV radiation¿¡ ÀÇÇØ¼­ vitamin D3 ·Î Àüȯ

         (±×·¯¹Ç·Î reduced skin exposure UV light´Â rickets¸¦ ÃÊ·¡)

   b. vitamin D3 ´Â blood streamÀ» ÅëÇÏ¿© vitamin D binding protein (DBP)¿¡ ÀÇÇØ¼­

      liver±îÁö Àü´Þ  

  2. in GI tract

   a. dietary vitamin D2(ergocalciferol) or vitamin D3 (cholecalciferol)ÀÇ ingestionÀº bile

      salts¿¡ ÀÇÇØ¼­ ´Ù¸¥ fat-soluble vitamin °ú ÇÔ²² Àå¿¡¼­ Èí¼öµÊ

   b. absorptionÈÄ chylomicrons¿¡ ÀÇÇØ¼­ liver¿¡ ±îÁö Àü´Þ

  3.liver¿¡¼­ hepatic microsomal enzyme¿¡ ÀÇÇØ¼­ 25-hydroxy vitamin D·Î º¯È¯.

   (À̶§ oxygen, NADPH, and magnesiumÀÌ ÇÊ¿ä)

  4.´ÙÀ½ 25(OH)D´Â  DBP¿¡ ÀÇÇØ¼­ kidney¿¡ Àü´Þ.

   (Âü°í  : 25(OH)D )

       a. main circulating vitamin D metabolite in humans(20-80ng/mL)(Table 24-16)

       b. weakly regulated by feedback

       c. its plasma level rises in summer and falls in winter

  5.kidney¿¡¼­ further hydroxylationµÊ

   a. reduced calcium or phosphate, elevated PTH ½Ã´Â 1,5(OH)2DÇü¼º 

     a)only 0.1% of the level of 25(OH)D

     b)tightly regulated by feedback

     c)ÀÛ¿ë  :  intestine¿¡¼­ calcium , phosphate Èí¼ö¸¦ Áõ°¡½ÃÅ´

     d)Ư¡  :  1.higher in children than in adults

               2.not subject to seasonal variability

               3.peak in the 1st yr of life and again during the adolescent

   b. normal or elevated serum calcium or phosphate ½Ã´Â 24,25(OH)2DÇü¼º

      a) pathway for the removal of excess vitamin D

      b) serum level of 1-5 ng/mL and becomes higher after ingestion of large amounts of

         vitamin D

 3)mineral deficiency´Â normal process of bone mineral depositionÀ»  ¾ïÁ¦ÇÔ 

  1. mineral deficiency at the growth plate

    :growth slows and bone age is retarded ( a condition called rickets )

  2. poor mineralization of trabecular bone

    :osteomalacia

    (Âü°í) osteoporosis

      1. a condition of equal loss of bone volume and mineral

      2. caused in childhood by steroid administration

      3. found in Turner and Klinefelter syndromes, or as an idiopathic

 4)Rickets ºÐ·ù :calcium-deficient or phosphate deficient rickets (Table 24-17)

Chapter 648. Familial Hypophosphatemia

(=vitamin D resistant rickets X-Linked Hypophosphatemia)

 1)°³¿ä

   1.the most commonly encounted form of rickets

   2.À¯Àü¾ç½Ä

    a. X-linked dominant : usual mode of inheritance

       ȯ¾ÆÀÇ mother´Â bowing, short stature ȤÀº only fasting hypophosphatemia¸¦ º¸ÀÏ ¼ö

        ÀÖÀ½ 

    b. ±× ¿Ü AR, sporadic forms µî

 2)PATHOGENESIS

   1.defects in the proximal tubular reabsorption of phosphate

   2.defects in the conversion of 25(OH)D to 1,25(OH)2D

 3)ÀÓ»ó ¼Ò°ß

   1,bowing of the lower extremities related to weight bearing at the age of walking

   2.waddling gait, smooth(rather than angular) bowing of the lower extremities coxa vara,

     genu varus, genu valgum, and short stature

   3."intraglobular dentin"(Ư¡ÀûÀÎ tooth abnormalities) : pulp deformities enamel defects´Â

     ´Â °¡²û ¹ß°ßµÇ¸ç ÀÌ´Â Calcium-deficient ricketsÀÇ Æ¯Â¡ÀÌ´Ù.

   4.tetany is not present

   5. adult height of untreated patients : 10 -165 cm

 4)¹æ»ç¼±ÇÐÀû ¼Ò°ß

   1.metaphyseal widening and fraying and coarse-appearing trabecular bone

   2.cupping of the metaphysis at the proximal and distal tibia and at the distal femur,

     radius, and ulna

 5)°Ë»ç½Ç ¼Ò°ß

   1.normal or slightly reduced serum calcium level(9-9.4mg/dL;2.24-2.34 mM/L)

   2.a moderately reduced serum phosphate level(1.5-3mg/dL; 0.48-0.9 mM/L)

   3.elevated alkaline phosphates activity

   4.no evidence of secondary hyperparathyroidism

   5.large urinary phosphate excretion, despite hypophosphatemia

   6.typical of pure phosphate-deficient ricket since aminoaciduria, glucosuria bicarbonaturia,

     and kaliuria are never found

 6)Ä¡·á

   1.oral phosphate supplements coupled with a vitamin D analog to offset the secondary

     hyperparathyroidism that may accompany an oral phosphate load

    a. oral phosphate : usually given every 4 hr for at least 5 times a day

      a)young children : .5-1 g/24hr, older children  : 1-4g/24hr

      b)Joulie solution (dibasic sodium phosphate 136 g/L, and Phosphoric acid, 58.8 g/L)

           which contains 30.4mg of phosphate/mL

      c)main side effect : diarrhea (which often improves spontaneously)

    b. vitamin D analog : important for complete bone healing and prevention of secondary

                        hyperparathyroidisn

      a)classically : vitamin D2 was used at 2000IU/Kg/24hr

      b)more recently :dihydrotachysterol at a dosage of 0.02mg/kg/24hr

                     1,25(OH)2D at dosage of 20-50ng/kg/24hr

    c .vitamin D°¡ È¿°ú°¡ ¾ø°í serum phosphate°¡ °¨¼ÒµÇ¸é, metaphyseal dysplasia¸¦

      ÀǽÉÇØ¾ß ÇÔ 

   2.corrective osteotomies

    a. surgery should always be deferred

     a) until rickets appears healed roentgenographically

     b) until serum ALP level is in the normal range

    b. surgery prior to bone healingÀº redevelopment of deformity and bowing°¡ ³ªÅ¸³¯ ¼ö

     ÀÖÀ½

    c.osteotomy¸¦ ½ÃÇàÇϴ ȯÀÚ´Â ¼ö¼ú Àü¿¡ ahems vitamin D preparationÀ» ÁßÁöÇØ¾ß Çϸç, 

       ambulationÇÒ ¶§±îÁö´Â ´Ù½Ã Åõ¾àÇÏÁö ¸»¾Æ¾ß ÇÑ´Ù.

      a)1,25(OH)2D

        ÀåÁ¡ ; 1. short half-lifeÀ̹ǷΠ¼ö¼ú ¹Ù·Î Á÷Àü¿¡ Áß´ÜÇÒ ¼öÀÖÀ½

               2.augmentation of intestinal phosphate absorption and may improve phosphate

                 balance

        ´ÜÁ¡ :concomitant oral phosphate¾øÀÌ »ç¿ëÇØ¼­´Â ¾ÈµÊ

      b)vitamin D2´Â Àû¾îµµ ¼ö¼ú 1°³¿ù Àü¿¡ Áß´ÜÇØ¾ß ÇÔ

 7)hypophosphatemic bone disease

   1.hypophosphatemia and hyperphosphaturia but X-ray evidence of rickets

   2.AD disease

   3. ÀÓ»ó ¼Ò°ß

    a, serum concentration of 1,25(OH)2D: normal

    b, renal tubular phosphate excretion defect, short stature

      ; not as marked as in familial hypophosphatemic rickets

   4. Ä¡·á : oral phosphate and 1,25(OH)2D

Chapter 649. Vitamin D Dependent Rickets

    (pseudovitamin D deficiency hypocalcemic  vitamin D resistant rickets )

  1)°³¿ä

   1,È£¹ß¿¬·É : 3-6 mo in children

   2, AR disorder

  2)¿øÀÎ : deficiency or greatly reduced in the enzyme activity of 25(OH)2D-1-hydroxylase

          ±×·¯¹Ç·Î hypocalcemia, hypophosphatemia, elevated PTH level ¿¡µµ ºÒ±¸Çϰí

           low serum levels of 1,25(OH)2D³ªÅ¸³¿

  3)°Ë»ç ¼Ò°ß

   1,low serum calcium and phosphate levels, and elevated ALP activity

   2,calcium deficient form À̹ǷΠ2ndary hyperparathyroidism, aminoaciduria,glucosuria

     renal tubular bicarbonate wasting, and renal tubular acidosis¸¦ ³ªÅ¸³¿

  4)ÀÓ»ó¼Ò°ß :dental enamel hypoplasia

  5)Ä¡·á

   1.massive dosage of vitamin D2(200,000-1million IU/24hr)

   2.the use of relatively low-dose 1,25(OH)2D at 1-2ug/24hr

  6)vitamin D dependency type II or hereditary resistancy  to 1,25(OH)2D

   1,°³¿ä

     a, vitamin D dependent ricketsÀÇ ¸î¸î ȯÀÚ¿¡¼­´Â high dose vitamin D2 or

        1,25(OH)2DÄ¡·á¿¡µµ ȸº¹ ¾øÀ½

     b, extremely high circulating levels of 1,25(OH)2D¿¡µµ ºÒ±¸Çϰí, hypocalcemia

          hypophosphatemia aminoaciduria°¡ °è¼ÓµÊ 

     c. particularly prevalent among children of 1st-cousin marriage

   2.patophysiologic mechanism :defect in the binding of 1,25(OH)2D to either cytoplasmic or

      nuclear receptors in skin and bone cells

     (by a single amino acid substitution in an important DNA-binding site in the receptor)

   3. some patients have short stature and alopecia totalis

   4 Ä¡·á :15-30ug/24hr 1,25(OH)2D

Chapter 650. Hepatic Rickets

 1)not uncommon in children with hepatic disorders, particularly in extrahepatic biliary

   atresia 

 2)¿øÀÎ :neonatal hepatitis and following hepatocellular damage induced by total parenteral

         nutrition

 3)±âÀü

   1,°ú°Å :impair 25-hydroxylation and thus reduce serum 25(OH)D

   2ÇöÀç :failure of bile salt secretionÀº vitamin DÀÇ Èí¼ö¿¡ Àå¾Ö

 4)°Ë»ç ¼Ò°ß

   reduced serum 25(OH)D values hypocalcemia, X-ray evidence

   elevated serum ALP activity (raised bone and heptic isoenzyme levels)

 5)Ä¡·á : high enough vitamin D doses to overcome malabsorption along with oral calcium

   1. 4,000 -10,000 IU of vitamin D2 (100-250ug)

   2 50 ug of 5(OH)D or 0.2ug/kg of 1,25(OH)2D

Chapter 651. Rickets Associated With Anticonvulsant Therapy

 1)°³¿ä

   1,calcium-deficient rickets , despite apparently adequate vitamin D intake

   2,more common after the combination of p-b and phenytoin

 2)¿øÀÎ

   1,ÀÌ anticonvulsant°¡ hepatic cytochrome P-450 hydroxylation enzyme activity¸¦ ÀÚ±ØÇÏ¿©

    25(OH)D¸¦ more polar, inactive metabolites·Î Àüȯ µû¶ó¼­ reduced serum levels of

    1,25(OH)2D°¡ µÊ  

   2,low intake of daily products (the major dietary source of calcium)

   3,very poor exposure  to sunlight

 3)Ä¡·á

   1 ÁÖ±âÀûÀÎ serum values of calcium, phosphate and alkaline phosphatase activityÃøÁ¤ 

   2¿¹¹æ a, providing an extra 500-1,000 IU of vitamin D2 each day

         b, ensuring that the dietary intake of calcium is adequate

Chapter 652. Oncogenic Rickets

    (primary hypophosphatemic rickets associated with tumor)

 1)rickets  associated with a tumor of mesenchymal origin,

   resolution upon removal of the tumor

 2)ÀÌ·¯ÇÑ tumorÀÇ Æ¯Â¡

  1,phosphate deficient form of rickets ¾ß±â

  2,mostly benign

  3,may become apparent only years  after the development of rickets

  4,may be located in sites difficult to detect, such as the small bones of the hands and feet,

    abdominal sheath, nasal antrum, and pharynx

  5,also associated with the epidermal nevus syndrome, neurofibromatosis, and linear nevus

    syndrome  

 3)°Ë»ç ¼Ò°ß : hypophosphatemia, hyperphosphaturia, glycinemia, glycinuria

 4)±âÀü :tumor°¡ still-unidentified substance¸¦ »ý¼ºÇÏ¿© phosphaturia¸¦ ¾ß±âÇϰí

        conversion of 25(OH)D to 1,25(OH)2D¸¦ ¹æÇØ  

        (normal serum 25(OH)D level, ±×·¯³ª 1,25(OH)2D´Â low but rapidly rise to normal

            after tumor excision)

 5)children with acquired or late-appearing hypophosphatemic rickets°¡ ÀÖÀ» °æ¿ì ¹Ýµå½Ã tumorÀ¯¹«¸¦ È®ÀÎÇϱâ À§Çؼ­ X-ray, bone scanÀ» ½Ç½Ã

 

24.66        RICKETS ASSOCIATED WITH RENAL TUBULAR ACIDOSIS

 

 1)type II or proxymal RTA

  1.rickets may be present

  2.hypophosphatemia and phosphaturia are common

  3.Ư¡ :hyperchloremic metabolic acidosis

         varing degrees of bicarbonaturia

         frequently hypercalciuria and hyperkaliuria

         lowered renal threshold for bicarbonate

         impaired urinary acidification at normal levels of serum bicarbonate

  4. Ä¡·á

      a, both bicarbonate and oral phosphate supplements to heal bone disease

      b, vitamin D(to offset the 2ndary hyperparathyroidism that complicates oral

         phosphate therapy)

 2)type I and distal RTA

  1, usually bone demineralization without overt rickets

     (due to dissolution of bone)

  2,an inability to form an  adequately acid urine t all levels of serum bicarbonate

  3,Ä¡·á :administration of sufficient bicarbonate to reverse acidosis

       (bone dissolution and the hypercalciura ÁßÁö½ÃÅ´ )

 3)in both types

  1.metabolic bone diseases ÃÊ·¡

   bone pain , growth retardation, osteopenia, and occasionally pathologic fractures

 2.circulating levels of 1,25(OH)2D :N

Chapter 653. Hypophosphatasia

 

 1)°³¿ä

  1,AR disorder that roentgenographically resembles rickets and is defined by low serum ALP

    activity

  2.now recognized to be an inborn error of metabolism

   :deficient activity of the tissue-nonspecific(liver/bone/kidney) ALP

  3.°£È¤ Ãâ»ý½Ã ³ªÅ¸³ª¸ç, diagnosis in utero by X-ray examination of the fetus µÉ ¼ö ÀÖÀ½

  4.ºÐ·ù´Â

   a. lethal neonatal or perinatal form (congenital lethal hypophosphatasia)

   b. a severe infantile form

   c. a milder form occurring in childhood or late adolescence

     (hypophosphatasia tarda)

 2)congenital lethal hypophosphatasia

  1.  lethal neonatal or perinatal form

  2.  Ư¡ :moth-eaten appearance at the ends of the long bones

           severe deficiency of ossification throughout the skeleton

           marked shortening of the long bone

  3.neonatal or infantile form ¿¡¼­´Â hypercalcemia¿¡ ÀÇÇÑ nephrocalcinosis¸¦ ¾ß±âÇÒ ¼ö ÀÖÀ½

 3)patients with the mild disease

  1. bowing of the legs and variable statural shortening

  2. calcium accumulation by mature chondrocytes dl µÇÁö ¾ÊÀ¸¹Ç·Î rickets °¡ ³ªÅ¸³¯ ¼ö ÀÖÀ½

  3.unusual clinical manifestration

    a)wormian bones in the calvarium

    b)poor calcification of the frontal , parietal and occipital bones

    c)premature loss of deciduous or permanent teeth owing to hypoplasia of dental cementum

  4.bone pain frequent fractures and milder skeletal deformities

  5.irregular ossification punched-out areas. and metaphyseal cupping in metaphysis

 4)°Ë»ç¼Ò°ß

  1. large quantities of phosphoethanolamine in urine (ÀÌ´Â ALP¿¡ ÀÇÇØ ºÐÇØµÊ )

  2. elevated plasma inorganic pyrophosphate and pyridoxal-5-phosphate

 5)Ä¡·á : no satisfactory therapy

         but infusion of plasma rich in ALP activity °¡ µµ¿òµÊ

 6)¿¹ÈÄ

  1,mild disease : often improves spontaneously as the child matures

  2. severe infantilie form : early death from renal failure, flail chest, or Pn

 7)pseudohypophosphatsia

  1,rare patients presenting identical clinical and X-ray patterns but normal serum-ALP

     activity

  2.may present the presence of a mutant ALP isozyme that reacts to artificial substrates in

    alkaline environment

Chapter 654. Primary Chondrodystrophy (Meaphyseal Dysplasia)

 

1)bowing of the legs , short stature, and a waddling gait in the absence of abnormalities of

  serum calcium, phosphate, ALP activity, or citamin D metabolites

2)Jasen type of metaphyseal chondrodysplasia

  1.typified by cupped and ragged metaphyses

  2.mottled calcification at the distal ends of bone over time

  3.hypercalcemia, with serum values of 13-15mg/dL

  4.deformed spine by the irregular growth

 3)Schmidt type of metaphyseal chondrodysplasia

  1. less severe

  2. familial hypophosphatemia ¿Í À¯»çÇÑ X-ray appearance of the knees and extreme bowing

    of the lower limbs

  3.more debilitating hip abnormalities

  4.Jasen type°ú ÇÔ²² life-long short stature

 4)metaphyseal dysotosis or Pyle disease

  1.defects in endochondral bone formation and metaphyseal modeling

  2. "Erlen-meyer flask" defect: splayed µÈ long ends of bones

  3. not present short stature, normal serum chemical levels

  4. meonine features if the facial bones are involved

 5)Ä¡·á : no effective forms of treatment

Chapter 655. Idiopathic Hypercalcemia

 

 1)Á¦ 2Â÷ ´ëÀü Á÷ÈÄ , ¿µ±¹ ¿µ¾Æ¿¡¼­ excessive quantities of vitamin D¸¦ food¿¡ °­È­½ÃÄ×À» ¶§

  hypercalcemia°¡ ³ªÅ¸³ª´Â µ¥ ´ëÇÑ ÀÇÇÐÀûÀÎ À̸ñÀÌ Ã³À½À¸·Î ÁýÁßÇÏ¿´´Ù ºñ·Ï ¸¹Àº ¿µ¾Æ°¡ ³ôÀº levelÀÇ vitamin D¿¡ ³ëÃâµÇ¾úÁö¸¸ ¼Ò¼ö¿¡¼­¸¸ hypercalcemia, failure to thrive, and decline in renal functionÀÌ ³ªÅ¸³µ´Ù.

 X-ray»ó osteosclerosis and dende bones at the metaphyses¸¦ ³ªÅ¸³ÂÀ¸¸ç, vitamin D content of milk¸¦ °¨¼ÒÇÑ ÈÄ·Î ÀÌ ÁúȯÀÌ ÁÙ¾ú´Ù.

  ´ÙÀ½Àº three forms of hypercalcemia of unknown origin ÀÇ ±â¼úÀÌ´Ù

  2)Williams syndrome or the elfin facies syndrome

   1.hypercalcemia : an infrequent finding

   2.sporadic

     a. some children: hypervitaminosis D without evidence of increased maternal or infantile

          vitamin D intake

     b. most cases : the circulating values for vitamin D metabolites ´Â normal

   3. slowly excretion of an infused calcium load

     evidence for increased production of 25(OH)D from vitamin D

   4.a constellation of manifestations

     a. characteristics facial features: small mandible, prominent maxilla, upturned nose,

       upper lip of Cupid's bow crve, and small peg-like teeth with numerous caries

     b, feeding problems and failure to thrive during the 1st  yr of life

     c. mild mental retardation

     d, unusual "cocktail party patter" personality : typical

     e. cardiac lesions : supravalvular aortic stenosis , peripheral pulmonary stenosis,

        hypoplasia of the aorta and ASD or VSD

     f. in hypercalcemic patients nephrocalcinosis and sclerotic long bones

 3)mild idiopathic hypercalcemia

   1. usually transient

   2phenotypic features of Williams syndromeÀº ¾øÀ½

   3 hypercalceuria and sometimes nephrocalcinosis, possibly resembling the English infants

      who received excessive vitamin D after World War II

   4. no evidence for abnormalities in vitamin D metabolism

 4) familial hypocalciuric hypercalcemia

   1.°³¿ä

    a, AD condition

    b, asymptomatic hypercalcemia without hypercalciuria

    c. pancreatitis in some families

      neonates of life-threatening parathyroid hyperplasia in a few kindreds

   2 °Ë»ç¼Ò°ß

    a serum calcium levels : exceeding 18 mg/dL

    b. mild parathyroid hyperplasia despite hypercalcemia

    c. normal vitamin D metabolism

   3.Ä¡·á

    a only the infants with serious hyperparathyroidism

      :an emergency parathyroidectomy

    b. serum magnesiumÀÌ Áõ°¡µÉ ¼ö ÀÖÁö¸¸ , ÀÌ´Â not a serious concern

Chapter 656. Hyperphosphatasia

 1)Ư¡ :excessive dldvaion of the bone isozyme of ALP in serum significant growth

        failure

 2)ÀÓ»ó¼Ò°ß

   1.osteoid proliferation in the subperiosteal portion of bone Àº periosteum°ú bone

    cortexÀÇ ºÐ¸®¸¦ ÃÊ·¡ÇÔ

   2. bowing and thickening of the diaphyses, along with osteopenia

   3. 2-3¼¼°æ onsetÇϸç painful deformity in the extremities , abnormal gait, and sometimes

        fractures·Î ³ªÅ¸³­´Ù .

   4other common findings : pectus carinatum, kyphoscoliosis, and rib fraying

   5.large skull, thickened and deformed cranium

 3)¹æ»ç¼±ÇÐÀû ¼Ò°ß

   1.variable bony testure : dense areas with radiolucent areas and general demineralization

         (showing a teased cotton-wool appearance)

   2. long boneÀº sylindric metaphyseal modeling ¼Ò½Ç , pseudocysts showing a dense body

        halo¸¦ ³ªÅ¸³¿

 4)°Ë»ç¼Ò°ß

   1.serum levels of both calcium and phosphate : normal

   2. urinary leucine amino acid peptidase activity and serum acid phosphatase :increased

 5)Á¾Á¾ juvenile Paget disease¶ó°í ÇÏ´Â µ¥ À̴  adult-onset Paget disease¿Í °°ÀÌ

   1calcitoninÀÌ ÀÌ Áúȯ¿¡¼­ ³ªÅ¸³ª´Â srapid bone turnover¸¦ °¨¼Ò½Ã۱⠶§¹®ÀÓ

   2.±×¸®°í ¼Ò¾Æ¿¡¼­´Â more generalized and symmetric ÇÏ´Ù

 6)Transient hyperphosphatemia

   1.2mo-2yr»çÀÌ¿¡ ³ªÅ¸³ª¸ç, Áõ»óÀÌ ¾ø¾î routine °Ë»ç¿¡¼­ ¿ì¿¬È÷ ¹ß°ßµÊ

   2.elevated both liver and bone isoenzyme fractions

    but no other manifestations of hepatic or bone dysfunction

   3.unknown etiology

   4.usually resolution within 4-6 mo

 7)Familial hyperphosphatemia

   1.AD trait benign condition

   2. transient infantile form°úÀÇ ±¸º°Àº persistent and asymptomatic elevations of serum

    ALP levels¿¡ ÀÇÇÔ