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Characterization of patients with heterozygous cystinuria.

[cystinuria]

To characterize a contemporary cohort of patients with heterozygous (TZ) cystinuria and compare them with a concurrent cohort of patients with homozygous (MZ) cystinuria.A retrospective review of prospectively collected data was performed for 42 consecutive patients presenting with a positive cyanide-nitroprusside test from September 2009 to September 2011. Clinical data were collected, including the findings from a detailed metabolic stone workup that included two 24-hour urine collections with quantitative cystine. The patients were divided into 2 groups: those with TZ (30-400 mg/d) and those with MZ (>400 mg/d) cystinuria.One patient was excluded because the cystine excretion was within the normal range (<30 mg/d), 35 (83.3%) and 6 (14.3%) had TZ and MZ cystinuria, respectively. Compared with those with TZ cystinuria, those with MZ cystinuria were significantly younger at the first stone episode (median 48 years, range 14-67, vs 17, range 6-44, P = .002), more were female (20% vs 66.7%; P = .03), and more patients had bilateral stones (8.6% vs 50%; P = .03). Finally, the patients with MZ cystinuria had more stone episodes than those with TZ cystinuria (3 vs 1; P = .04). From the detailed metabolic stone evaluation, the incidence of hyperuricemia was significantly greater in the MZ patients (17.1% vs 66.7%; P = .02). Although all the MZ patients developed pure cystine stones, 18 (51.4%), 7 (20.0%), and 3 (8.6%) of the TZ patients developed calcium oxalate, uric acid, and cystine stones, respectively (P < .001). In the TZ group, 11 patients (31.4%) had false-negative results on subsequent cyanide-nitroprusside testing.Significant differences were found between the patients with TZ and MZ cystinuria in terms of age at the first stone episode, male/female ratio, incidence of hyperuricemia, and stone composition. The clinical significance remains to be elucidated.

Diseases presenting "respectively" symptom

  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cushing syndrome
  • cystinuria
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dentinogenesis imperfecta
  • epidermolysis bullosa simplex
  • esophageal squamous cell carcinoma
  • familial hypocalciuric hypercalcemia
  • harlequin ichthyosis
  • hereditary cerebral hemorrhage with amyloidosis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • kallmann syndrome
  • lamellar ichthyosis
  • liposarcoma
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • oral submucous fibrosis
  • pendred syndrome
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • triple a syndrome
  • von hippel-lindau disease
  • well-differentiated liposarcoma
  • wolf-hirschhorn syndrome

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