IllnessRickets, hypophosphataemic; differential diagnosis

NGS +

[Sanger]

Rickets is characterized by a mineralization defect and widening of the epiphyseal plate joints. Osteomalacia is a mineralization defect of the bone matrix. Rickets and osteomalacia usually occur together in children. Rickets occurs exclusively in children, while adults develop osteomalacia after the epiphyseal plates have closed. The clinical manifestations of rickets vary depending on the underlying aetiology, severity and duration of the disease. Children often have some bony manifestations (hydrocephalus, broad fontanelles, deformities of the thorax, weight carrying limbs and spine, growth retardation, bone pain, limb fractures). In addition to delayed dentition, hypotension, proximal myopathy, tetany, paresthesia, muscle spasms, cramps may occur; in extreme cases, hypocalcaemia can lead to cardiomyopathy and death. Hereditary hypophosphatemia and rickets can follow all classical inheritance traits, including X-linked dominant and recessive. The diagnostic yield is unknown; an inconspicuous genetic finding does not exclude a suspected clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK83985/

https://www.ncbi.nlm.nih.gov/books/NBK562285/https://www.ncbi.nlm.nih.gov/books/NBK493172/

• Alias: Phosphate diabetes
• Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
• Allelic: Arterial calcification, generalized, of infancy, 1 (ENPP1)
• Allelic: Cole disease (ENPP1)
• Allelic: Dent disease (CLCN5)
• Allelic: Dent disease 2 (OCRL)
• Allelic: Diabetes mellitus, non-insulin-dependent, susceptibility to (ENPP1)
• Allelic: Fanconi renotubular syndrome 2 (SLC34A1)
• Allelic: Hypercalcemia, infantile, 2 (SLC34A1)
• Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
• Allelic: Nephrolithiasis, type I (CLCN5)
• Allelic: Obesity, susceptibility to (ENPP1)
• Allelic: Osseous heteroplasia, progressive (GNAS)
• Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
• Allelic: Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (CLCN5)
• Allelic: Pseudopseudohypoparathyroidism (GNAS)
• Allelic: Tumoral calcinosis, hyperphosphatemic, familial, 2 (FGF23)
• Hypophosphatasia, infantile, childhood, adult (ALPL)
• Hypophosphatemic rickets (CLCN5)
• Hypophosphatemic rickets with hypercalciuria (SLC34A3)
• Hypophosphatemic rickets, AD (FGF23)
• Hypophosphatemic rickets, AR (DMP1)
• Hypophosphatemic rickets, AR, 2 (ENPP1)
• Hypophosphatemic rickets, XLD (PHEX)
• Lowe syndrome (OCRL)
• Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (SLC34A1)
• Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (SLC9A3R1)
• Odontohypophosphatasia (ALPL)
• Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
• Raine syndrome (FAM20C)
• Rickets, vitamin D-resistant, type IIA (VDR)
• Tumoral calcinosis, hyperphosphatemic, familial, 3 (KL)
• Tyrosinemia, type I (FAH)
• Vitamin D-dependent rickets, type I (CAP27B1)