Bone metabolism disorders

Hereditary diseases with multiple symptoms

Hypophosphataemic rickets

In this hereditary disease (also called “phosphate diabetes”), affected individuals excrete excessive amounts of phosphate through the urine. As a result, growing bones remain soft and deformed. The first signs of the disease can be seen as early as two to three months after birth. The anamnesis is followed by a blood pressure measurement, ECG and a hearing test. The height is also compared with the growth curve of healthy children.

The following symptoms can occur:

  • Increased FGF23 serum level
  • Curved legs and leg deformities (from the age of 2)
  • Abnormal growth of the cranial bones
  • Conspicuous head shape (asymmetrically long skull shape, lateral flattening, bulging forehead, widening of the bone sutures)
  • Malalignment of the knee joints (X-/O-legs)
  • Waddling, wide-legged gait
  • Frequent bone fractures and pain
  • Osteoarthritis due to bone malpositions
  • Muscle weakness
  • Shortened body parts
  • Early growth retardation
  • Impaired tooth development, tooth abscesses, paradontosis
  • Sensorineural hearing loss

Possible diagnostic procedures:

  • Determination of relevant serum levels (phosphate, alkaline phosphatase, vitamin D3)
  • Urine tests
  • Molecular biological tests
  • Bone density measurement using DXA
  • Determination of bone age by radiography
  • X-rays
  • MRT
  • Sonography of the kidneys
  • Heart echo (for people with high blood pressure)

Possible therapeutic measures:

  • Medicinal (including for vitamin D metabolism, calcium, antibody build-up)
  • Physical (treat muscle weakness, improve coordination and mobility)
  • Surgical (take care of skeletal deformities)
  • Orthopaedic (treat severe bone deformities)
  • Dental treatments
  • ENT treatments


Hypophosphatasia (also called “Rathbun’s syndrome”) is a rare, hereditary, non-curable metabolic disorder that is usually diagnosed in infancy and is caused by a genetic mutation. In hypophosphatasia, alkaline phosphatase (extremely important for bone formation) is insufficiently produced. The disease manifests itself in various ways, and the symptoms are non-specific. However, there are four types of hypophosphatasia, depending on age: perinatal, infantile, juvenile and adult. In the special form of odonto-hypophosphatasia, there is premature loss of the (milk) teeth.

The following symptoms may occur:

  • Rickets-like symptoms (including waddling gait, x-/o-legs)
  • Conspicuous short stature
  • Recurrent fatigue fractures
  • Poor healing of fractures
  • Bone marrow oedema (abnormal accumulation of fluid)
  • Muscle and bone pain
  • Pathological remodelling processes in the bones
  • Conspicuous early loss of milk teeth, maldevelopment of dentition
  • Periodontosis, conspicuous problems with caries, tooth anomalies
  • Pathological deposits in the joint, mineralisation of the joint cartilage, joint pain
  • Tendonitis, calcification and adhesions, rheumatism
  • Diarrhoea, constipation, malaise due to intolerances
  • Depression, headaches, anxiety disorders, insensitivity
  • Kidney stones, kidney weakness, insufficiency and calcification

Possible diagnostic procedures:

  • Bone density measurement using DXA
  • X-rays
  • Bone scintigraphy
  • MRT
  • Nuclear medicine examinations
  • Molecular biological examinations
    Laboratory tests (e.g. calcium, phosphate, vitamin B6)
  • Examination of bone remodelling markers

It is also important to find out whether the patients have a thyroid disease, suffer from anaemia or bone malformations. Is there dangerous copper accumulation with associated functional disorders of the liver, central nervous system, eyes and/or kidneys (Wilson’s disease)? Is the vitamin deficiency disease scurvy also present? Can overweight operations be responsible for certain values? Is there a severe magnesium deficiency? Are certain contraceptives being taken?

Possible therapeutic measures:

A (long-term) enzyme replacement therapy replaces the alkaline phosphatase that is genetically missing. This therapy can alleviate many of the symptoms mentioned of Bone metabolism disorders. Drug therapy with non-steroidal anti-inflammatory drugs, osteoporosis therapeutics and vitamin D is also possible. Heat or cold therapy and physiotherapy are also recommended.

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