Skeletal features of primary hyperoxaluria type 1, revisited.

[primary hyperoxaluria type 1]

The purpose of this study was to describe the skeletal manifestations of primary hyperoxaluria type 1 (PH 1 ), the most common of the primary hyperoxalurias .We clinically and radiographically reviewed 12 consecutive patients diagnosed with PH 1 , aged between 2 and 17 years . All patients had evidence of some type of renal involvement , 4 of whom were at end-stage renal disease (ESRD ) and were under dialysis .The main symptom was skeletal pain and was present only in the 4 severely involved patients and appeared during the second year of dialysis . The 2 most severely involved patients had evidence of pathological fractures . Radiological signs were present in patients with or without symptoms . These radiological signs were of two distinct types : those almost specific of oxalosis , such as dense and radiolucent metaphyseal bands and vertebral osteocondensations , which are found mainly in the severely involved individuals , and those less specific , such as signs of renal osteodystrophy , which are also found in less severely involved patients . Interestingly , our study revealed the presence of spondylolysis in 25 % of cases . This latter finding is unique and has not previously been reported in the literature .The skeletal manifestations of PH 1 include specific and less specific radiological signs , with some patients being asymptomatic , and others presenting with bone pain and pathological fractures , as well as spondylolysis .

Diseases
Validation

Diseases presenting "pain" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

aniridia

aromatase deficiency

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital diaphragmatic hernia

congenital toxoplasmosis

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

dentin dysplasia

dracunculiasis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

fabry disease

familial mediterranean fever

focal myositis

hirschsprung disease

hodgkin lymphoma, classical

holt-oram syndrome

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

malignant atrophic papulosis

neuralgic amyotrophy

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

phenylketonuria

pleomorphic liposarcoma

primary hyperoxaluria type 1

proteus syndrome

pyomyositis

scrub typhus

sneddon syndrome

systemic capillary leak syndrome

thoracic outlet syndrome

trochlear dysplasia

typhoid

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

wolf-hirschhorn syndrome

This symptom has already been validated