HEREDITARY FORMS OF RICKETS AND OSTEOMALACIA

Abstract

1. We have described here various forms of rickets and osteomalacia that we have studied ourselves and have come to recognise as comprising definite syndromes. We have included only diseases in which hereditary factors have been proved or might be suspected to play a part. 2. There are more of these syndromes than previously defined. 3. All these hereditary diseases can be treated, usually very satisfactorily, using the same general principles and with only very few simple medicines such as vitamin D and sodium bicarbonate. Careful control and long follow-up, however, may be required to achieve best results and to avoid accidents. 4. A study of the genetics of the diseases is a help in diagnosis and treatment. Broadly speaking the group of diseases which mimic vitamin D deficiency more or less closely tend to be inherited in dominant fashion. The groups with more severe degree of renal-tubule abnormality are inherited as recessives. 5. When more than one member of a family is affected it has been found that in each family each syndrome runs true to type.