OBJECTIVE: To report experience in patients with Kallmann syndrome (KS) in whom urography was used to establish the type and frequency of renal anomalies associated with the disorder. PATIENTS AND METHODS: Of 19 patients with KS, 15 had the X-linked recessive form of the disease, whereas the remaining four were sporadic. Each patient underwent intravenous pyelography (IVP) using a non-ionic, low osmolarity contrast medium. RESULTS: Of the 19 patients with KS, 10 had kidney abnormalities; four presented with unilateral renal agenesis and six had less severe forms of renal abnormality (renal malrotation in four and bilateral dilatation of the calyces and pelves in two). One of the patients with unilateral renal agenesis carried a deletion in KAL, the gene responsible for the X-linked type of KS. Three of the four patients with renal malrotation had a confirmed X-linked recessive form and one carried a point mutation in KAL. CONCLUSION: These results suggest that kidney abnormalities are more frequent and diverse in patients with KS than previously reported. They also indicate that defects in the KAL gene may contribute to abnormal renal development. However, a review of the literature revealed no close correlation between KAL mutations and kidney anomalies in the X-linked type of disease. Taken together, these data suggest that KAL mutations are not invariably associated with failure of renal development and that additional factors (epigenetic or local) may compensate for defects in the KAL protein.
OBJECTIVE: To report experience in patients with Kallmann syndrome (KS) in whom urography was used to establish the type and frequency of renal anomalies associated with the disorder. PATIENTS AND METHODS: Of 19 patients with KS, 15 had the X-linked recessive form of the disease, whereas the remaining four were sporadic. Each patient underwent intravenous pyelography (IVP) using a non-ionic, low osmolarity contrast medium. RESULTS: Of the 19 patients with KS, 10 had kidney abnormalities; four presented with unilateral renal agenesis and six had less severe forms of renal abnormality (renal malrotation in four and bilateral dilatation of the calyces and pelves in two). One of the patients with unilateral renal agenesis carried a deletion in KAL, the gene responsible for the X-linked type of KS. Three of the four patients with renal malrotation had a confirmed X-linked recessive form and one carried a point mutation in KAL. CONCLUSION: These results suggest that kidney abnormalities are more frequent and diverse in patients with KS than previously reported. They also indicate that defects in the KAL gene may contribute to abnormal renal development. However, a review of the literature revealed no close correlation between KAL mutations and kidney anomalies in the X-linked type of disease. Taken together, these data suggest that KAL mutations are not invariably associated with failure of renal development and that additional factors (epigenetic or local) may compensate for defects in the KAL protein.
Authors: Mary C Whitman; Brenda J Barry; Caroline D Robson; Flavia M Facio; Carol Van Ryzin; Wai-Man Chan; Tanya J Lehky; Audrey Thurm; Christopher Zalewski; Kelly A King; Carmen Brewer; Konstantinia Almpani; Janice S Lee; Angela Delaney; Edmond J FitzGibbon; Paul R Lee; Camilo Toro; Scott M Paul; Omar A Abdul-Rahman; Bryn D Webb; Ethylin Wang Jabs; Hans Ulrik Moller; Dorte Ancher Larsen; Jayne H Antony; Christopher Troedson; Alan Ma; Glad Ragnhild; Katrine V Wirgenes; Emma Tham; Malin Kvarnung; Timothy James Maarup; Sarah MacKinnon; David G Hunter; Francis S Collins; Irini Manoli; Elizabeth C Engle Journal: Hum Genet Date: 2021-10-15 Impact factor: 4.132
Authors: Maria I Stamou; Harrison Brand; Mei Wang; Isaac Wong; Margaret F Lippincott; Lacey Plummer; William F Crowley; Michael Talkowski; Stephanie Seminara; Ravikumar Balasubramanian Journal: J Clin Endocrinol Metab Date: 2022-07-14 Impact factor: 6.134