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Table 1 Differential diagnosis of cystinosis according to the most common presenting manifestations

From: Cystinosis: a review

Presenting manifestations Diseases MIM Gene Protein Other characteristic features at presentation
Proximal renal tubular acidosis Tyrosinemia type I 276700 FAH Fumarylacetoacetase Hepatomegaly, mental retardation
  Galactosemia 230400 GALT Galactose-1-phosphate uridylyltransferase Lethargy, jaundice, bleeding disorders, cataract, intellectual disability
  Hereditary fructose intolerance 229600 ALDOB Aldolase B Seizures, irritability, poor feeding, lethargy, liver disease
  Wilson disease 277900 ATP7B Copper transporting P-type ATPase Liver disease, neuropsychiatric manifestations, Kayser-Fleischer ring in the cornea
  Lowe syndrome 309000 OCRL Phosphatidylinositol 4,5-diphosphate 5-phosphatase Congenital cataract, glaucoma, intellectual disability, hypotonia, seizures, behavioral problems
  Dent’s disease 300009 CLCN5 Chloride Channel Protein number 5 Low molecular weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, progressive renal failure
  Mitochondrial disorders:     
- Leigh syndrome 256000 COX10 Cytochrome C oxidase assembly protein Encephalopathy, myopathy, respiratory istress, deterioration of cognitive function
- Gracile syndrome 603358 BCS1L S. cerevisiae bcs1 protein homolog Severe lactic acidosis, hypoglycemia, cholestasis, iron overload
- HUPRA syndrome 613845 SARS2 Seryl-t-RNA synthetase Hyperuricemia, pulmonary hypertension, renal failure, alkalosis
- Mitochondrial DNA depletion syndrome 8 612075 RRM2B Ribonucleotide reductase small subunit 2 like Neonatal hypotonia, lactic acidosis, neurologic deterioration
- Mitochondrial DNA depletion syndrome 13 615471 FBXL4 Leucine rich repeat protein 4 Hypotonia, lactic acidois, microcephaly, congenital cataract
  Heavy metal toxicity: Lead, cadmium ---------- ----------- --------------------------------------- Anemia, abdominal pain, encephalopathy, osteomalacia, neurological manifestations
Hypophosphatemic Rickets Hypophosphatemic nephrolithiasis/osteoporosis I 612286 SLC34A1 Sodium-phosphate cotransporter, member 1 Nephrolithiasis, osteoporosis, multiple fractures
  Hypophosphatemic nephrolithiasis/osteoporosis II 612287 SLC9A3R1 Sodium/hydrogen exchanger regulatory factor 1 Nephrolithiasis, osteoporosis, hypocalcemia, hypoparathyroidism
  Autosomal dominant hypophosphatemic rickets 193100 FGF23 Fibroblast growth factor 23 Fatigue, bony pains, bone deformities
  Autosomal recessive hypophosphatemic rickets 241520 DMP1 Dentin matrix acidic phosphoprotein 1 Retarded skeletal growth, abnormal mineralization
  Hereditary hypophosphatemic rickets with hypercalciuria 241530 SLC34A3 Sodium-phosphate cotransporter, member 3 Elevated serum 1,25-dihydroxy vitamin D levels, hypercalciuria, osteomalacia, nephrolithiasis, nephrocalcinosis
  Vitamin D dependent rickets type I 264700 CYP27B1 25-hydroxyvitamin D3-1-alpha-hydroxylase Hypotonia, muscle weakness, seizures
  Vitamin D dependent rickets type II 277440 VDR vitamin D receptor Alopecia, hypocalcemia, secondary hyperparathyroidism, osteomalacia, osteitis fibrosa cystica
Stunted growth Cystic fibrosis 219700 CFTR Cystic fibrosis transmembrane conductance regulator protein Frequent chest infections, pancreatic insufficiency
  Chronic malnutrition ---------- ----------- --------------------------------------- Fatigue, anemia, poor cognitive function, behavioral changes, history of poor socioeconomic standard
  Hormonal causes     
- Hypothyroidism ---------- ----------- --------------------------------------- Lethargy, fatigue, dry skin, cold intolerance, constipation, mental subnormality
- GH deficiency ---------- ----------- --------------------------------------- Short stature with general good health, normal intelligence
  Familial ---------- ----------- --------------------------------------- Family history
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