Adult persons with genetically or biochemically verified hereditary hypophosphatemia.

Adult control persons without disturbances in calcium, vitamin D or phosphate homeostasis matched on age, gender and menopausal status.

Whole blood, serum, white cells, urine, and bone tissue.

X-linked Hypophosphatemia

Hereditary Hypophosphatemia

Dept. of Endocrinology and Internal Medicine, The Osteoporosis Clinic

Characterising Pain, QoL, Body Composition, Arterial Stiffness, Muscles and Bones in Adult Persons With XLH and Healthy Controls

Characterising Pain, Quality of Life, Body Composition, Arterial Stiffness, Muscle Function, Bone Density and Geometry in Adult Persons With Hereditary Hypophosphatemia and Healthy Controls

Pressure pain threshold assessed by pressure algometry

Assessed by questionnaire (FACT-BP) on a scale from 0 to 4. Higher scores mean a worse outcome.

Assessed by questionnaire (Brief Pain Inventory) on a scale from 0 to 10. 0 meaning no pain, 10 meaning worst pain ever.

Assessed by questionnaire (painDETECT) on a scale from 0 to 10. 0 meaning no pain, 10 meaning worst pain ever.

Assessed by questionnaire (SF36v2) on a scale from 1 to 5. Higher scores meaning a worse outcome.

24 hour blood pressure of the upper right arm

Assessed by tonometry using SphygmoCor system

Assessed by tonometry using Arteriograph24

Handgrip strength, elbow and knee flexion and extension assessed by dynamometer chair (Good Strength; Metitur Ltd, Finland).

Measures the time to stand up, walk three metres in a straight line, and immediately return to the chair.

Measures the time for ten consecutive chair rises.

Measures the time for ten consecutive weight lifts.

Measures the distance walked in 6 minutes.

Assessed by HRpQCT of distal tibia, distal radius, and bone biopsy

Osteoid volume in trabecular and compact bone assessed by histomorphometry on bone biopsy

Osteoid thickness in trabecular and compact bone assessed by histomorphometry on bone biopsy

Osteoid surface covering in trabecular and compact bone assessed by histomorphometry on bone biopsy

Assessed by histomorphometry on bone biopsy

Assessed by questionnaire (Pain Catastrophizing Scale) on a scale from 0 to 4. Higher scores mean a worse outcome.

Assessed by questionnaire (Patient Health Questionnaire) on a scale from 0 to 3. Higher scores mean a worse outcome.

Assessed by questionnaire (Generalized Anxiety Disorder 7) on a scale from 0 to 3. Higher scores mean a worse outcome.

Measured in standing, weight bearing position.

Passive mobility of the neck, shoulder, elbow, wrist, ankle, back, hip and knee will be measured from anatomic neutral position using a protractor and compared to normal values.

BMD at the lumbar spine, femoral neck and distal forearm assessed by DXA

Plasma concentration of ion-calcium taken in a fasting state

Plasma concentration of phosphate taken in a fasting state

Plasma concentration of magnesium taken in a fasting state

Plasma concentration of creatinine taken in a fasting state

Plasma concentration of PTH taken in a fasting state

Plasma levels of 25OHD, 1,25(OH)2D, 24,25(OH)2D, 1,24,25(OH)3D and vitamin D-binding protein taken in a fasting state

Plasma concentration of FGF23 taken in a fasting state

Plasma concentration of sclerostin taken in a fasting state

Plasma concentration of klotho taken in a fasting state

Plasma concentration of osteopontin taken in a fasting state

Plasma levels of bone-specific alkaline phosphatase, osteocalcin, procollagen type I N-terminal propeptide (P1NP), C-terminal telopeptide (CTX)

Plasma levels of tissue non-specific alkaline phosphatase taken in a fasting state

University of Aarhus

Renal Tubule Acidosis

Arterial blood gases

Blood anion gap

serum electrolytes

renal function test

urine PH, specific gravity, aminoaciduria, glycosuria, phospaturia and 24 hr urine calcium

urine analysis

Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital

Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH)

percentage of cases presented by metabolic acidosis , failure to thrive and polyuria and diagnosed as RTA by arterial blood gases, blood anion gap, serum electrolytes, kidney function tests and urine analysis.

this is by measurement of serum K+ and urine PH. normal or low level of serum K+ with urine PH < 5,5 with proximal RTA, while normal or low level of serum K+ with urine PH > 5,5 with distal RTA. high level of serum K+ with urine PH < 5,5 with hyperkalemic type 4 RTA, while high level of serum K+ with urine PH > 5,5 with voltage defect distal RTA

rickets/kalium

Characterising Pain, QoL, Body Composition, Arterial Stiffness, Muscles and Bones in Adult Persons With XLH and Healthy Controls

Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital

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